Arto Mannermaa

A Multi-View Deep Evidential Learning Approach for Mammogram Density Classification

Gudhe, Naga Raju; Mazen, Sudah; Sund, Reijo; Kosma, Veli-Matti; Behravan, Hamid; Mannermaa, Arto. 2024. IEEE access. 12: 67889-67909 A1 Journal article (refereed), original research

A dataset of mammography images with area-based breast density values, breast area, and dense tissue segmentation masks

Behravan, Hamid; Gudhe, Naga Raju; Okuma, Hidemi; Sudah, Mazen; Mannermaa, Arto. 2024. Data in brief. 57: A1 Journal article (refereed), original research

Circulating Micro-RNAs Predict the Risk of Recurrence in Triple-Negative Breast Cancer

Kujala, Jouni; Tengström, Maria; Heikkinen, Sami; Taipale, Mari; Kosma, Veli-Matti; Hartikainen, Jaana M; Mannermaa, Arto. 2024. Cells. 13: A1 Journal article (refereed), original research

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

Davidson, Aimee L; Michailidou, Kyriaki; Parsons, Michael T; Fortuno, Cristina; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Naven, Marc; Abubakar, Mustapha; Ahearn, Thomas U; Alonso, M Rosario; Andrulis, Irene L; Antoniou, Antonis C; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina A; Bogdanova, Natalia V; Bojesen, Stig E; Brüning, Thomas; Byers, Helen J; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; NBC. 2024. American journal of human genetics. 111: 2059-2069 A1 Journal article (refereed), original research

Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort

Räsänen, Joel; Heikkinen, Sami; Mäklin, Kiira; Lipponen, Anssi; Kuulasmaa, Teemu; Mehtonen, Juha; Korhonen, Ville E; Junkkari, Antti; Grenier-Boley, Benjamin; Bellenguez, Celine; Oinas, Minna; Avellan, Cecilia; Frantzén, Janek; Kotkansalo, Anna; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; von und zu Fraunberg, Mikael; Lönnrot, Kimmo; Satopää, Jarno; Perola, Markus; Koivisto, Anne M; Julkunen, Valtteri; Portaankorva, Anne M; Mannermaa, Arto; Soininen, Hilkka; Helisalmi, Seppo; Jääskeläinen. 2024. Neurology. 103: A1 Journal article (refereed), original research

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bra. 2024. Nature genetics. 56: 1397-1411 A1 Journal article (refereed), original research

A FinnGen pilot clinical recall study for Alzheimer’s disease

Julkunen, Valtteri; Schwarz, Claudia; Kalapudas, Juho; Hallikainen, Merja; Piironen, Aino-Kaisa; Mannermaa, Arto; Kujala, Hanna; Laitinen, Timo; Kosma, Veli-Matti; Paajanen, Teemu I.; Kälviäinen, Reetta; Hiltunen, Mikko; Herukka, Sanna-Kaisa; Kärkkäinen, Sari; Kokkola, Tarja; Urjansson, Mia; FinnGen; Perola, Markus; Palotie, Aarno; Vuoksimaa, Eero; Runz, Heiko. 2023. Scientific reports. 13: . 12641 A1 Journal article (refereed), original research

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

Zanti, Maria; O'Mahony, Denise G.; Parsons, Michael T.; Li, Hongyan; Dennis, Joe; Aittomäkkiki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Aronson, Kristan J.; Augustinsson, Annelie; Becher, Heiko; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Brown, Melissa A.; Buys, Saundra S.; Canzian, Federico; Caputo, Sandrine M.; Castelao, Jose E.; Chang-Claude, Jenny; GC-HBOC study Collaborators; Czene, Kamila; Daly, Mary B.; De Nicolo, Arcangela; Devilee, Peter; Dörk, Thilo; Dunning, Ali. 2023. Human mutation. 2023: . 9961341 A1 Journal article (refereed), original research

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Mueller, Stefanie H.; Lai, Alvina G.; Valkovskaya, Maria; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Lush, Michael; Abu-Ful, Zomoruda; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Augustinsson, Annelie; Baert, Thais; Freeman, Laura E. Beane; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brenner. 2023. Genome medicine. 15: . 7 A1 Journal article (refereed), original research

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Morra, Anna; Schreurs, Maartje A. C.; Andrulis, Irene L.; Anton-Culver, Hoda; Augustinsson, Annelie; Beckmann, Matthias W.; Behrens, Sabine; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Broeks, Annegien; Buys, Saundra S.; Camp, Nicola J.; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chung, Wendy K.; Colonna, Sarah, V; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; Dennis, Joe; Devilee, Peter; Doerk, Thilo; Dunning, Alison M.; Dwek, Miriam; E. 2023. Cancer medicine. 12: 16142-16162 A1 Journal article (refereed), original research

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

Levi, Hagai; Carmi, Shai; Rosset, Saharon; Yerushalmi, Rinat; Zick, Aviad; Yablonski-Peretz, Tamar; The BCAC Consortium; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Lush, Michael; Ahearn, Thomas; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura; Beckmann, Matthias; Behrens, Sabine; Bermisheva, Marina; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Byers, Helen; Camp. 2023. Journal of medical genetics. 60: 1186-1197 A1 Journal article (refereed), original research

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Figlioli, Gisella; Billaud, Amandine; Ahearn, Thomas U.; Antonenkova, Natalia N.; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blok, Marinus J.; Bogdanova, Natalia V.; Bonanni, Bernardo; Burwinkel, Barbara; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; Chanock, Stephen J.; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine D.; Gabrielson, Marike; Gago-Domin. 2023. European journal of human genetics. 31: 578-587 A1 Journal article (refereed), original research

FinnGen provides genetic insights from a well-phenotyped isolated population

Kurki, Mitja I.; Karjalainen, Juha; Palta, Priit; Sipilä, Timo P.; Kristiansson, Kati; Donner, Kati M.; Reeve, Mary P.; Laivuori, Hannele; Aavikko, Mervi; Kaunisto, Mari A.; Loukola, Anu; Lahtela, Elisa; Mattsson, Hannele; Laiho, Päivi; Della Briotta Parolo, Pietro; Lehisto, Arto A.; Kanai, Masahiro; Mars, Nina; Rämö, Joel; Kiiskinen, Tuomo; Heyne, Henrike O.; Veerapen, Kumar; Rüeger, Sina; Lemmelä, Susanna; Zhou, Wei; Ruotsalainen, Sanni; Pärn, Kalle; Hiekkalinna, Tero; Koskelainen, Sami; Paaja. 2023. Nature. 613: 508-518 A1 Journal article (refereed), original research

Nuclei instance segmentation from histopathology images using Bayesian dropout based deep learning

Gudhe, Naga Raju; Kosma, Veli-Matti; Behravan, Hamid; Mannermaa, Arto. 2023. Bmc medical imaging. 23: . 162 A1 Journal article (refereed), original research

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Muranen, Taru A.; Morra, Anna; Khan, Sofia; Barnes, Daniel R.; Bolla, Manjeet K.; Dennis, Joe; Keeman, Renske; Leslie, Goska; Parsons, Michael T.; Wang, Qin; Ahearn, Thomas U.; Aittomäki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Behrens, Sabine; Bialkowska, Katarzyna; Bojesen, Stig E.; Camp, Nicola J.; Chang-Claude, Jenny; Czene, Kamila; Devilee, Peter; Domchek, Susan M.; Dunning, Alison M.; Engel, Christoph; Evans, D. Gareth; Gago-Dominguez, Manuela; García-Closas, Montserrat; Gerdes, Anne. 2023. npj breast cancer. 9: . 37 A1 Journal article (refereed), original research

Predicting cell type counts in whole slide histology images using evidential multi-task learning

Gudhe, Naga Raju; Sudah, Mazen; Mannermaa, Arto; Kosma, Veli-Matti; Behravan, Hamid. Teoksessa: Tomaszewski, John E; Ward, Aaron D(toim.) , 2023. Medical Imaging 2023: Digital and Computational Pathology. s. 239-247. SPIE A4 Conference proceedings

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Figlioli, Gisella; Billaud, Amandine; Wang, Qin; Bolla, Manjeet K.; Dennis, Joe; Lush, Michael; Kvist, Anders; Adank, Muriel A.; Ahearn, Thomas U.; Antonenkova, Natalia N.; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; NBCS Collaborators; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A.; Flyger, Henrik; Gabri. 2023. Cancers. 15: A1 Journal article (refereed), original research

Suusyövän epigenetiikka

Malinen Hanna; Mannermaa Arto; Siponen Maria. 2023. Suomen hammaslääkärilehti. 30: 30-36 A2 Review article, Literature review, Systematic review

The impact of coding germline variants on contralateral breast cancer risk and survival

Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Camp, Nicola J.; Carvalho, Sara; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; NBCS Collaborators; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M.; Ekici, Arif B.; Eriksson, Mikael; Evans, D. Gar. 2023. American journal of human genetics. 110: 475-486 A1 Journal article (refereed), original research

The prognostic and predictive role of tumor-infiltrating lymphocytes (FoxP3 + and CD8 +) and tumor-associated macrophages in early HER2 + breast cancer

Jääskeläinen, Minna M; Tiainen, Satu; Siiskonen, Hanna; Ahtiainen, Maarit; Kuopio, Teijo; Rönkä, Aino; Kettunen, Tiia; Hämäläinen, Kirsi; Rilla, Kirsi; Harvima, Ilkka; Mannermaa, Arto; Auvinen, Päivi. 2023. Breast cancer research and treatment. 201: 183-192 A1 Journal article (refereed), original research

A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women

Wang, Xiaoliang; Chen, Hongjie; Kapoor, Pooja Middha; Su, Yu-Ru; Bolla, Manjeet K.; Dennis, Joe; Dunning, Alison M.; Lush, Michael; Wang, Qin; Michailidou, Kyriaki; Pharoah, Paul D.P.; Hopper, John L.; Southey, Melissa C.; Koutros, Stella; Freeman, Laura E. Beane; Stone, Jennifer; Rennert, Gad; Shibli, Rana; Murphy, Rachel A.; Aronson, Kristan; Guénel, Pascal; Truong, Thérèse; Teras, Lauren R.; Hodge, James M.; Canzian, Federico; Kaaks, Rudolf; Brenner, Hermann; Arndt, Volker; Hoppe, Reiner; Lo,. 2022. Cancer research communications. 2: 211-219 A1 Journal article (refereed), original research

Area-based breast percentage density estimation in mammograms using weight-adaptive multitask learning

Gudhe, Naga Raju; Behravan, Hamid; Sudah, Mazen; Okuma, Hidemi; Vanninen, Ritva; Kosma, Veli-Matti; Mannermaa, Arto. 2022. Scientific reports. 12: . 12060 A1 Journal article (refereed), original research

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T.; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M.; Adank, Muriel A.; Ahearn, Thomas U.; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Trench, Georgia; Collée, . 2022. Genome medicine. 14: . 51 A1 Journal article (refereed), original research

Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors

Kujala, Jouni; Hartikainen, Jaana M.; Tengström, Maria; Sironen, Reijo; Auvinen, Päivi; Kosma, Veli Matti; Mannermaa, Arto. 2022. Cancers. 14: . 1332 A1 Journal article (refereed), original research

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Ahearn, Thomas U.; Zhang, Haoyu; Michailidou, Kyriaki; Milne, Roger L.; Bolla, Manjeet K.; Dennis, Joe; Dunning, Alison M.; Lush, Michael; Wang, Qin; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J.; Auer, Paul L.; Augustinsson, Annelie; Baten, Adinda; Becher, Heiko; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brenner, Hermann; Brooks-Wilson, Angela; Brüning, Thoma. 2022. Breast cancer research. 24: . 2 A1 Journal article (refereed), original research

Distinct reproductive risk profiles for intrinsic-like breast cancer subtypes: pooled analysis of population-based studies

Jung, Audrey Y; Ahearn, Thomas U; Behrens, Sabine; Middha, Pooja; Bolla, Manjeet K; Wang, Qin; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Beane Freeman, Laura E; Becher, Heiko; Brenner, Hermann; Canzian, Federico; Carey, Lisa A; CTS Consortium; Czene, Kamila; Eliassen, A Heather; Eriksson, Mikael; Evans, D Gareth; Figueroa, Jonine D; Fritschi, Lin; Gabrielson, Marike; Giles, Graham G; Guénel, Pascal; Hadjisavvas, Andreas; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann. 2022. Journal of the national cancer institute. 114: 1706-1719 A1 Journal article (refereed), original research

Expression profiles of small non-coding RNAs in breast cancer tumors characterize clinicopathological features and show prognostic and predictive potential

Kärkkäinen, Emmi; Heikkinen, Sami; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto; Hartikainen, Jaana M.. 2022. Scientific reports. 12: . 22614 A1 Journal article (refereed), original research

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Ruotsalainen, Sanni E.; Surakka, Ida; Mars, Nina; Karjalainen, Juha; Kurki, Mitja; Kanai, Masahiro; Krebs, Kristi; Graham, Sarah; Mishra, Pashupati P.; Mishra, Binisha H.; Sinisalo, Juha; Palta, Priit; Lehtimäki, Terho; Raitakari, Olli; Esko, Tõnu; Metspalu, Andres; Mägi, Reedik; Nelis, Mari; Milani, Lili; Matsuda, Koichi; Yamanashi, Yuji; Furukawa, Yoichi; Morisaki, Takayuki; Murakami, Yoshinori; Kamatani, Yoichiro; Muto, Kaori; Nagai, Akiko; Obara, Wataru; Yamaji, Ken; Takahashi, Kazuhisa; Asa. 2022. Communications biology. 5: . 802 A1 Journal article (refereed), original research

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Tamlander, Max; Mars, Nina; Pirinen, Matti; Palotie, Aarno; Daly, Mark; Riley-Gills, Bridget; Jacob, Howard; Paul, Dirk; Runz, Heiko; John, Sally; Plenge, Robert; Maranville, Joseph; Okafo, George; Lawless, Nathan; Salminen-Mankonen, Heli; McCarthy, Mark; Hunkapiller, Julie; Ehm, Meg; Auro, Kirsi; Longerich, Simonne; Fox, Caroline; Mälarstig, Anders; Klinger, Katherine; Raipal, Deepak; Green, Eric; Graham, Robert; Yang, Robert; O’Donnell, Chris; Mäkelä, Tomi; Kaprio, Jaakko; Virolainen, Petri; H. 2022. Communications biology. 5: . 158 A1 Journal article (refereed), original research

Malignant and in situ subtypes of melanoma are associated with basal and squamous cell carcinoma and its precancerous lesions

Suhonen, Ville; Siiskonen, Hanna; Suni, Maunu; Rummukainen, Jaana; Mannermaa, Arto; Harvima, Ilkka T.. 2022. European journal of dermatology. 32: 187-194 A1 Journal article (refereed), original research

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Breast Cancer Association Consortium; Mavaddat, Nasim; Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Keeman, Renske; Bolla, Manjeet K.; Dennis, Joe; Wang, Qin; Ahearn, Thomas U.; Andrulis, Irene L.; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Briceno, Ignacio; Brüning, Thomas; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Tren. 2022. JAMA oncology. 8: A1 Journal article (refereed), original research

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Dixon-Suen, Suzanne C; Lewis, Sarah J; Martin, Richard M; English, Dallas R; Boyle, Terry; Giles, Graham G; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Ahearn, Thomas U; Ambrosone, Christine B; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bona. 2022. British journal of sports medicine. 56: 1157-1170 A1 Journal article (refereed), original research

Rare germline copy number variants (CNVs) and breast cancer risk

Dennis, Joe; Tyrer, Jonathan P.; Walker, Logan C.; Michailidou, Kyriaki; Dorling, Leila; Bolla, Manjeet K.; Wang, Qin; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Freeman, Laura E. Beane; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Castelao, Jose E.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Clarke, Christine L.; Kristensen, . 2022. Communications biology. 5: . 65 A1 Journal article (refereed), original research

A case-only study to identify genetic modifiers ofbreast cancer risk for BRCA1/BRCA2mutationcarriers

Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A; Dennis, Joe; Tyrer, Jonathan P; Barnes, Daniel R; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K; Adank, Muriel A; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K. et al [Incl. Kosma, Veli-Matti; Mannermaa, Arto]. 2021. Nature communications. 12: 1078 A1 Journal article (refereed), original research

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Morra, Anna; Escala-Garcia, Maria; Beesley, Jonathan; Keeman, Renske; Canisius, Sander; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L; Augustinsson, Annelie; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Brüning, Thomas; Buys, Saundra S; et al; [incl. Hartikainen, Jaana; Mannermaa, Arto]. 2021. Breast cancer research. 23: 86 A1 Journal article (refereed), original research

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

Morra, Anna; Jung, Audrey Y; Behrens, Sabine; Keeman, Renske; Ahearn, Thomas U; Anton-Culver, Hoda; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi K; Freeman, Laura E Beane; Becher, Heiko; Beckmann, Matthias W; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Briceno, Ignacio; Brucker, Sara Y; Camp, Nicola J; Campa, Daniele et al. [incl. Mannermaa, Arto]. 2021. Cancer epidemiology biomarkers and prevention. 30: 623-642 A1 Journal article (refereed), original research

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Luccarini, Craig; Wahlström, Cecilia; Pooley, Karen A.; Parsons, Michael T.; Fortuno, Cristina; Wang, Qin; Bolla, Manjeet K.; Dennis, Joe; Keeman, Renske M.; Alonso, Rosario; Álvarez, Nuria; Herraez, Belen; Fernandez, Victoria; Núñez-Torres, Rocio; Osorio, Ana; Valcich, Jeanette et al. [incl. Hartikainen, Jaana; Kosma, Veli-Matti; Mannermaa, Arto]. 2021. The new england journal of medicine. 384: 428-439 A1 Journal article (refereed), original research

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Johnson, Nichola; Maguire, Sarah; Morra, Anna; Kapoor, Pooja Middha; Tomczyk, Katarzyna; Jones, Michael E; Schoemaker, Minouk J; Gilham, Clare; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Baynes, Caroline; Freeman, Laura E et al. [Incl. Kosma, Veli-Matti; Mannermaa, Arto]. 2021. British journal of cancer. 124: 842-854 A1 Journal article (refereed), original research

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Natarajan, Pradeep; Pampana, Akhil; Graham, Sarah E; Ruotsalainen, Sanni E; Perry, James A; de Vries, Paul S;. Broome, Jai G; Pirruccello, James P; Honigberg, Michael C; Aragam, Krishna; Wolford, Brooke; Brody, Jennifer A; Antonacci-Fulton, Lucinda; Arden, Moscati; Aslibekyan, Stella; Assimes, Themistocles L; Ballantyne, Christie M; Bielak, Lawrence F; Bis, Joshua C.; Cade, Brian E; et al. [incl. FinGen; Kosma, Veli-Matti; Mannermaa, Arto]. 2021. Nature communications. 12: 2182 A1 Journal article (refereed), original research

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Baxter, Joseph S.; Johnson, Nichola; Tomczyk, Katarzyna; Gillespie, Andrea; Maguire, Sarah; Brough, Rachel; Fachal, Laura; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W. [incl. Kosma, Veli-Matti, Mannermaa, Arto]. 2021. American journal of human genetics. 108: 1190-1203 A1 Journal article (refereed), original research

Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Park, JooYong; Choi, Ji-Yeob; Choi, Jaesung; Chung, Seokang; Song, Nan; Park, Sue K; Han, Wonshik; Noh, Dong-Young; Ahn, Sei-Hyun; Lee, Jong Won; Kim, Mi Kyung; Jee, Sun Ha; Wen, Wanqing; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Michailidou, Kyriaki; Shah, Mitul; Conroy, Don M; Harrington, Patricia A; et al; [incl. Mannermaa, Arto; Hartikainen, Jaana]. 2021. Cancers. 13: 2370 A1 Journal article (refereed), original research

Genetic insights into biological mechanisms governing human ovarian ageing

Ruth, Katherine S.; Day, Felix R.; Hussain, Jazib; Martínez-Marchal, Ana; Aiken, Catherine E.; Azad, Ajuna; Thompson, Deborah J.; Knoblochova, Lucie; Abe, Hironori; Tarry-Adkins, Jane L.; Gonzalez, Javier Martin; Fontanillas, Pierre; Claringbould, Annique; Bakker, Olivier B.; Sulem, Patrick; Walters, Robin G.; Terao, Chikashi; Turon, Sandra; Horikoshi, Momoko; Lin, Kuang [incl. Mannermaa, Arto]. 2021. Nature. 596: 393-397 A1 Journal article (refereed), original research

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

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Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. Nature communications. 4: Article number:4999 A1 Journal article (refereed), original research

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Mannermaa A, Kataja V, Kosma V-M, Hartikainen J, Easton DF, Pharoah PDP, Arias-Perez JI, Zamora P, Benitez J, Milne RL et.al. 2014. British journal of cancer. 110: 1088-1100 A1 Journal article (refereed), original research

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R. 2014. Clinical genetics. 88: 68-73 A2 Review article, Literature review, Systematic review

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

Sawyer Elinor, Roylance Rebecca, Petridis Christos, Brook Mark N, Nowinski Salpie, Papouli Efterpi, Fletcher Olivia, Pinder Sarah, Hanby Andrew, Kohut Kelly, Gorman Patricia, Caneppele Michele, Peto Julian, dos Santos Silva Isabel, Johnson Nichola, Swann Ruth, Dwek Miriam, Perkins Katherine-Anne, Gillett Cheryl, Houlston Richard et al (incl. Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Hartikainen Jaana M,). 2014. PLoS genetics. 10: e1004285 A1 Journal article (refereed), original research

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Johnson Nichola, Dudbridge Frank, Orr Nick, Gibson Lorna, Jones Michael E, Schoemaker Minouk J, Folkerd Elizabeth J, Haynes Ben P, Hopper John L, Southey Melissa C, Dite Gillian S, Apicella Carmel, Schmidt Marjanka K, Broeks Annegien, Van T Veer Laura J, Atsma Femke et al. 2014. Breast cancer research and treatment. 16: R51 A1 Journal article (refereed), original research

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, Andrulis IL, Cox A, Hall P, Carpenter J, Yannoukakos D, Haiman CA, Fasching PA, Mannermaa A, ...,Hartikainen JM, Kosma VM, Kataja V, et al.. 2014. Human molecular genetics. 23: 6034-6046 A1 Journal article (refereed), original research

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer

Purrington Kristen S, Slager Susan, Eccles Diana, Yannoukakos Drakoulis, Fasching Peter A, Miron Penelope, Carpenter Jane, Chang-Claude Jenny, Martin Nicholas G, Montgomery Grant W, Kristensen Vessela, Anton-Culver Hoda, Goodfellow Paul, Tapper William J, Rafiq Sajjad, Gerty Susan M, Durcan Lorraine, Konstantopoulou Irene, Fostira Florentia, Vratimos Athanassios et.al. (including Kosma Veli-Matti, Mannermaa Arto). 2014. Carcinogenesis. 35: 1012-1019 A1 Journal article (refereed), original research

Hyaluronan synthases (HAS1-3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival

Auvinen Päivi, Rilla Kirsi, Tumelius Ritva, Tammi Markku, Sironen Reijo, Soini Ylermi, Kosma Veli-Matti, Mannermaa Arto, Viikari Jukka, Tammi Raija. 2014. Breast cancer research and treatment. 143: 277-286 A1 Journal article (refereed), original research

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, kConFab Investigators; Australian Ovarian Cancer Study Group, et al.. 2014. Human molecular genetics. 2014: 1-14 A1 Journal article (refereed), original research

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

Schoeps Anja, Rudolph Anja, Seibold Petra, Dunning Alison M, Milne Roger L, Bojesen Stig E, Swerdlow Anthony, Andrulis Irene, Brenner Hermann, Behrens Sabine, Orr Nicholas, Jones Michael, Ashworth Alan, Li Jingmei, Cramp Helen, Connley Dan, Czene Kamila, Darabi Hatef, Chanock Stephen J, Lissowska Jolanta et al (incl Kosma Veli-Matti, Kataja Vesa, Hartikainen Jaana M, Mannermaa Arto). 2014. Genetic epidemiology. 38: 84-93 A1 Journal article (refereed), original research

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. International journal of cancer. 136: E685-E696 A1 Journal article (refereed), original research

MicroRNA Related Polymorphisms and Breast Cancer Risk

Khan Sofia, Greco Dari, Michailidou Kyriaki, Milne Roger L, Muranen Taru A, Heikkinen Tuomas, Aaltonen Kirsimari, Dennis Joe, Bolla Manjeet K, Liu Jianjun, Hall Per, Irwanto Astrid, Humphreys Keith, Li Jingmei, Czene Kamila, Chang-Claude Jenny, Hein Rebecca, Rudolp Anja, Seibold Petra, Flesch-Janys Dieter et at (including Kataja Vesa, Kosma Veli-Matti, Hartikainen Jaana M, Mannermaa Arto). 2014. PLoS ONE. 9: e109973 (1-12) A1 Journal article (refereed), original research

MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen

Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Soini Ylermi, Hirvonen Ari, Kataja Vesa. 2014. Acta oncologica. 53: 769-775 A1 Journal article (refereed), original research

Overexpression of MicroRNA-200c Predicts Poor Outcome in Patients with PR-Negative Breast Cancer

Tuomarila M, Luostari K, Soini Y, Kataja V, Kosma VM, Mannermaa A. 2014. PLoS ONE. 9: e109508: 1-8 A1 Journal article (refereed), original research

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Perry John RB, Day Felix, Elks Cathy E, Sulem Patrick, Thompson Deborah J, Ferreira Teresa, He Chunyan, Chasman Daniel I, Esko Tõnu, Thorleifsson Gudmar, Albrecht Eva, Ang Wei Q, Corre Tanguy, Cousminer Diana L, Feenstra Bjarke, Franceschini Nora, Ganna Andrea, Johnson Andrew D, Kjellqvist Sanela, Lunetta Kathryn L et al. 2014. Nature. 514: 92-97 A1 Journal article (refereed), original research

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Spurdle Amanda B, Couch Fergus J, Parsons Michael T, McGuffog Lesley, Barrowdale Daniel, Bolla Manjeet K, Wang Qin, Healey Sue, Schmutzler Rita Katharina, Wappenschmidt Barbara, Rhiem Kerstin, Hahnen Eric, Engel Christoph, Meindl Alfons, Ditsch Nina, Norbert Arnold, Plendl Hansjoerg, Niede et al. (incl. Hartikainen Jaana)racher Dieter, Sutter Christian, Wang-Gohrke Shan,. 2014. Breast cancer research. 16: 3419 A1 Journal article (refereed), original research

Type II Transmembrane Serine Protease Gene Variants Associate with Breast Cancer

Luostari Kaisa, Hartikainen Jaana M, Tengström Maria, Palvimo Jorma J, Kataja Vesa, Mannermaa Arto, Kosma Veli-Matti. 2014. PLoS ONE. 9: e102519 A1 Journal article (refereed), original research

XRCC1 rs25487 polymorphism predicts the survival of patients after postoperative radiotherapy and adjuvant chemotherapy for breast cancer

Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Hirvonen Ari, Kataja Vesa. 2014. Anticancer research. 34: 3031-3037 A1 Journal article (refereed), original research

&#947 -Secretase Components as Predictors of Breast Cancer Outcome

Peltonen HM, Haapasalo A, Hiltunen M, Kataja V, Kosma VM, Mannermaa A. 2013. PLoS ONE. 8: e79249, 1-13 A1 Journal article (refereed), original research

A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: a two-stage design with replication

Hein R, Flesch-Janys D, Dahmen N, Beckmann L, Lindström S, Schoof N, Czene K, Mittelstraß K, Illig T, Seibold P, Behrens S, Humphreys K, Li J, Liu J, Olson et al. 2013. Breast cancer research and treatment. 138: 529-42 A1 Journal article (refereed), original research

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.

Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Häberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Silva Idos S, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, Nordestgaard BG, Bojesen SE, Lanng C, Anton-Culver H, Ziogas A, Bernstein L, Clarke CA, Brenner H, Müller H, Arndt V, Stegmaier C, Brauch H, Brüning T, Harth V; G. 2013. PLoS genetics. 9: e1003284 A1 Journal article (refereed), original research

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1

Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK, Wang Q, de Santiago I, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Schmidt MK, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2013. American journal of human genetics. 93: 1046-1060 A1 Journal article (refereed), original research

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E et.al.. 2013. American journal of human genetics. 92: 489-503 A1 Journal article (refereed), original research

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L, Buring JE, Eccles D, et. al. 2013. Nature genetics. 45: 392-8 A1 Journal article (refereed), original research

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D; KConFab Investigators, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M; Ontario Cancer Genetics Network, Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'A. 2013. PLoS genetics. 9: e1003173 A1 Journal article (refereed), original research

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A et. al. 2013. Nature genetics. 45: 353-61 A1 Journal article (refereed), original research

Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer

Tuhkanen H, Hartikainen JM, Soini Y, Velasco G, Sironen R, Nykopp TK, Kataja V, Eskelinen M, Kosma VM, Mannermaa A.. 2013. International journal of cancer. 133: 2334-2340 A1 Journal article (refereed), original research

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz et al. 2013. Nature genetics. 45: 371-84 A1 Journal article (refereed), original research

The UGT1A6_19_GG genotype is a breast cancer risk factor

Justenhoven C, Obazee O, Winter S, Rabstein S, Lotz A, Harth V, Pesch B, Brüning T, Baisch C, Hartikainen JM, Mannermaa A, Kosma VM, Kataja V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Fasching PA, Beckmann M, Ekici AB, Hein A, Hall P, Li J, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Hamann U, Ko YD, Brauch H. & al.. 2013. Frontiers in genetics. 4: 1-6 A1 Journal article (refereed), original research

11q13 is a susceptibility locus for hormone receptor positive breast cancer

Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Cornelissen S, van Hien R, Sawyer E, Tomlinson I, Kerin M, Miller N, Milne RL, Zamora MP, Pérez JI et.al.. 2012. Human mutation. 33: 1123-1132 A1 Journal article (refereed), original research

19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus

Stevens Kristen N, Fredericksen Zachary, Vachon Celine M, Wang Xianshu, Margolin Sara, Lindblom Annika, Nevanlinna Heli, Greco Dario, Aittomäki Kristiina, Blomqvist Carl, Chang-Claude Jenny, Vrieling Alina, Flesch-Janys Dieter, Sinn Hans-Peter, Wang-Gohrke Shan, Nickels Stefan, Brauch Hiltrud, Ko Yon-Dschun, Fischer Hans-Peter, Schmutzler Rita K. 2012. Cancer research. 72: 1795-1803 A1 Journal article (refereed), original research

9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Warren H, Dudbridge F, Fletcher O, Orr N, Johnson N, Hopper JL, Apicella C, Southey MC, Mahmoodi M, Schmidt MK, Broeks A, Cornelissen S, Braaf LM, Muir KR, Lophatananon A, Chaiwerawattana A, Wiangnon S, Fasching PA, Beckmann MW, Ekici AB et al. 2012. Cancer epidemiology biomarkers and prevention. 21: 1783-1791 A1 Journal article (refereed), original research

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, et.al.. 2012. PLoS ONE. 7: e35706 A1 Journal article (refereed), original research

Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions

Solyom S, Aressy B, Pylkäs K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, Kauppila S, Nikkilä J, Kosma VM, Mannermaa A, Greenberg RA, Winqvist R.. 2012. Science translational medicine. 4: 122-123 A1 Journal article (refereed), original research

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, van't Veer LJ, Garcia-Closas M, Jopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ et.al.. 2012. Journal of clinical oncology. 30: 4308-16 A1 Journal article (refereed), original research

Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Hein R, Maranian M, Hopper J L, Kapuscinski M K, Southey M C, Park D J, Schmidt M K, Broeks A, Hogervorst F B L, Bueno-de-Mesquit H B, Muir K R, Lophatananon A, Rattanamongkongul S, Puttawibul P, Fasching P A, Hein A, Ekici A B, Beckmann M W, Fletcher O, Johnson N, et.al.. 2012. PLoS ONE. 7: - A1 Journal article (refereed), original research

Genetic Polymorphisms and Protein Expression of NRF2 and Sulfiredoxin Predict Survival Outcomes in Breast Cancer

Hartikainen JM,Tengström M, Kosma VM, Kinnula VL, Mannermaa A, Soini Y.. 2012. Cancer research. 72: 5537-5546 A1 Journal article (refereed), original research

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Drive K, Johnson N, Orr N, Dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, et al. 2012. Nature genetics. 44: 312-318 A1 Journal article (refereed), original research

Histone demethylase GASC1 - a potential prognostic and predictive marker in invasive breast cancer.

Berdel B, Nieminen K, Soini Y, Tengström M, Malinen M, Kosma VM, Palvimo J, Mannermaa A. 2012. Bmc cancer. 12: e1-15 A1 Journal article (refereed), original research

Increased hyaluronan content and stromal cell CD44 associate with HER2 positivity and poor prognosis in human breast cancer

Auvinen P, Tammi R, Kosma VM, Sironen R, Soini Y, Mannermaa A, Tumelius R, Uljas E, Tammi M. 2012. International journal of cancer. 132: 531-539 A1 Journal article (refereed), original research

PREDICT Plus: Development and validation of a prognostic model for early breast cancer that includes HER2

Wishart GC, Bajdik CD, Dicks E, Provenzano E, Schmidt MK, Sherman M, Greenberg DC,. Green AR, Gelmon KA, Kosma V-M, Olson JE, Beckmann MW, Winqvist R, Cross SS, Severi G, Huntsman D, Pylkäs K, Ellis I, Nielsen TO, Giles G, et.al.. 2012. British journal of cancer. 107: 800-807 A1 Journal article (refereed), original research

Proto-oncogene PIM-1 is a novel estrogen receptor target associating with high grade breast tumors

Malinen M, Jääskeläinen T, Pelkonen M, Heikkinen S, Väisänen S, Kosma VM, Nieminen K, Mannermaa A, Palvimo JJ. 2012. Molecular and cellular endocrinology. 2013; 365: 270-276 A1 Journal article (refereed), original research

SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in breast cancer?

Tengström M, Mannermaa A, Kosma V-M, Hirvonen A, Kataja V. 2012. Bmc cancer. 12: 257 B1 Non-refereed journal articles

The role of genetic breast cancer susceptibility variants as prognostic factors

Fasching PA, Pharoah PD, Cox A, Nevanlinna H, Bojesen SE, Karn T, Broeks A, Van Leeuwen FE, Van't Veer LJ, Udo R, Dunning AM, Greco D, Aittomäki K, Blomqvist C, Shah M, Nordestgaard BG, Flyger H, Hopper JL, Southey MC, Apicella C, et.al.. 2012. Human molecular genetics. 21: 3926-3939 A1 Journal article (refereed), original research

7q21-rs6964587 and breast cancer risk: an extended case¿control study by the Breast Cancer Association Consortium

Milne Roger L, Lorenzo-Bermejo Justo, Burwinkel Barbara, Malats Nuria, Arias Jose Ignasio, Zamora Pilar M, Benitéz Javier, humphreys Manjeet K, Garciá-Closas Montserrat, Chanock Stephen J, Lissowska Jolanta, Sherman Mark E, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Nevanlinna Heli, Heikkinen Tuomas, Aittomäki Kristiina Blomqvist Carl, Anto-Culver Hoda, et al.. 2011. Journal of medical genetics. 48: 698-702 A1 Journal article (refereed), original research

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Ger. 2011. Nature genetics. 43: 1210-1214 A1 Journal article (refereed), original research

Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

Yang Xiaohong R, Chang-Claude Jenny, Goode Ellen L, Couch Fergus J, Nevanlinna Heli, Milne Roger L, Gaudet Mia, Schmidt Marjanka K, Broeks Annegien, Cox Angela, Fasching Peter A, Hein Rebecca, Spurdle Amanda B, Blows Fiona, Driver Kristy, Flesch-Janys Dieter, Heinz Judith, Sinn Peter, Vrieling Alina, Heikkinen Tuomas et al. 2011. Journal of the national cancer institute. 103: 250-263 A1 Journal article (refereed), original research

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.

Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benítez J, Milne RL, Ignacio Arias J, Zamora MP, Brenner H, Müller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhov. 2011. Human molecular genetics. 20: 4693-4706 A1 Journal article (refereed), original research

Common breast cancer susceptibility loci are associated with triple-negative breast cancer.

Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H; GENICA consortium, Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, Sinn HP, Konstantopoulou I, Fostira F, Pectasides D, Dimopoulos AM, Fountzilas G, Clarke CL, Balleine R, Olson JE, Fredericksen Z, Diasio RB, Patha. 2011. Cancer research. 71: 6240-6249 A1 Journal article (refereed), original research

Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer.

Milne RL, Goode EL, García-Closas M, Couch FJ, Severi G, Hein R, Fredericksen Z, Malats N, Zamora MP, Pérez JI, Benítez J, Dörk T, Schürmann P, Karstens JH, Hillemanns P, Cox A, Brock IW, Elliot G, Cross SS, Seal S, Turnbull C, Renwick A, Rahman N, Shen CY, Yu JC, Huang CS, Hou MF, Nordestgaard BG, Bojesen SE, Lanng C, Alnæs GG, Kristensen V, Børrensen-Dale AL, Hopper JL, Dite GS, Apicella C, Southey MC, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Sangrajrang S, Gaborieau V, Brennan P, McKay. 2011. Cancer epidemiology biomarkers and prevention. 20: 2222-2231 A1 Journal article (refereed), original research

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk.

Stevens KN, Garcia-Closas M, Fredericksen Z, Kosel M, Pankratz VS, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Tollenaar RA, Fasching PA, Beckmann MW, Hein A, Ekici AB, Johnson N, Peto J, Dos Santos Silva I, Gibson L, Sawyer E, Tomlinson I, Kerin MJ, Chanock S, Lissowska J, Hunter DJ, Hoover RN, Thomas GD, Milne RL, Pérez JA, González-Neira A, Benítez J, Burwinkel B, Meindl A, Schmutzler RK, Bartrar CR, Hamann U, Ko YD, Brüning T, Chang-Claude J, Hein R, Wan. 2011. British journal of cancer. 105: 1934-9 A1 Journal article (refereed), original research

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, von Wachenfeldt Wäppling A, Haanpää M, Puistola U, Rosengren A, Anttila M, Kosma VM, Mannermaa A, Winqvist R.. 2011. Breast cancer research and treatment. 130: 1003-10 A1 Journal article (refereed), original research

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Broeks, Annegien; Schmidt, Marjanka K; Sherman, Mark E; Couch, Fergus J; Hopper, John L; Dite, Gillian S; Apicella, Carmen; Smith, Letitia D; Hammet, Fleur; Southey, Melissa C; Van't Veer, Laura J; de Groot, Renate; Smit, Vincent T. H. B. M; Fasching, Peter A; Beckmann, Matthias W; Jud, Sebastian; Ekici, Arif B; Hartmann, Arndt; Hein, Alexander; Schulz-Wendtland, Ruediger et al.. 2011. Human molecular genetics. 20: 3289-3303 A1 Journal article (refereed), original research

Transcription factors zeb1, twist and snai1 in breast carcinoma

Soini Ylermi, Tuhkanen Hanna, Sironen Reijo, Virtanen Ismo, Kataja Vesa, Auvinen Päivi, Mannermaa Arto, Kosma Veli-Matti. 2011. Bmc cancer. 11: - A1 Journal article (refereed), original research

Transcription of factor snail1 expression and poor survival in pharyngeal squamous cell carcinoma

Jouppila-Mättö A, Tuhkanen H, Soini Y, Pukkila M, Närkiö-Mäkelä M, Sironen R, Virtanen I, Mannermaa A, Kosma V-M. 2011. Histology and histopathology. 26: 443-449 A1 Journal article (refereed), original research

Twist and snai1 expression in pharyngeal squamous cell carcinoma stroma is related to cancer progression

Juoppila-Mättö Anna, Närkiö-Mäkelä Mervi, Soini Ylermi, Pukkila Matti, Sironen Reijo, Tuhkanen Hanna, Mannermaa Arto, Kosma Veli-Matti. 2011. Bmc cancer. 11: 350 A1 Journal article (refereed), original research

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-controt study

Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ & et al. 2010. Breast cancer research. 12: 110 A1 Journal article (refereed), original research

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, et.al.. 2010. Journal of the national cancer institute. 102: 650-662 A1 Journal article (refereed), original research

Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

Fletcher O, Johnson N, Dos Santos Silva I, Orr N, Ashworth A, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Burwinkel B, et.al.. 2010. Cancer epidemiology biomarkers and prevention. 19: 2143-2151 A1 Journal article (refereed), original research

ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival

Kauppinen J, Kosma V-M, Soini Y, Sironen R, Nissinen M, Nykopp T, Kärjä V, Eskelinen M, Kataja V, Mannermaa A. 2010. Cancer epidemiology biomarkers and prevention. 19: 2133-2142 A1 Journal article (refereed), original research

Association of ESR1 gene tagging SNPs with breast cancer risk

Dunning AM, Healey CS, Baynes C, Maia A-T, Scollen S, Vega A, Rodrígues R, Barbosa-Morais N L, Ponder BAJ..., Mannermaa A, Kosma V-M, ...Pooley KA, Chenevix-Trench G. 2009. Human molecular genetics. 18: 1131-1139 A1 Journal article (refereed), original research

Beta-amyloid deposition in brains of subjects with diabetes

Alafuzoff I, Aho L, Helisalmi S, Mannermaa A, Soininen H, Soininen H. 2009. Neuropathology and applied neurobiology. 1: 60-68 A1 Journal article (refereed), original research

Combined risk effects of IDE and NEP gene variants on Alzheimer disease

Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttilä T, Soininen H, Hiltunen M, Helisalmi S, Pirttilä T, Soininen H, Hiltunen M. 2009. Journal of neurology neurosurgery and psychiatry. 80: 1268-1270 A1 Journal article (refereed), original research

Five polymorphisms and breast cancer risk: results from the breast cancer association consortium

Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL..., Mannermaa A, Kataja V, Kosma V-M, Lindblom SM...et al. 2009. Cancer epidemiology biomarkers and prevention. 18: 1610-1616 A1 Journal article (refereed), original research

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Mannermaa A, Kosma V-M, Kataja V, ...Easton DF. 2009. Nature genetics

Nuclear expression of Snail1 in borderline and malignant epithelial ovarian tumours is associated with tumour progression

Tuhkanen H, Soini Y, Kosma V-M, Anttila M, Sironen R, Hämäläinen K, Kukkonen L, Virtanen I, Mannermaa A. 2009. Bmc cancer. 9: A1 Journal article (refereed), original research

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

Milne RL, Benítez J, Nevanlinna H, Heikkinen T..., Mannermaa A, Kataja V, Kosma V-M. 2009. Journal of the national cancer institute. 101: 1012-1018 A1 Journal article (refereed), original research

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

Garcia-Closas M, Hall P, Nevanlinna H ..., Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma V-M, Kataja V, Chenevix-Trench G .... 2008. PLoS genetics. 4: [e1000054] A1 Journal article (refereed), original research

NAD(P)H:quinone oxidoreductase 1 NQ01*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

Fagerholm Rainer, Hofstetter Barbara, Tommiska Johanna, Aaltonen Kirsimari, Vrtel Radek, Syrjäkoski Kirsi, Kallioniemi Anne, Kilpivaara Outi, Mannermaa Arto, Kosma Veli-Matti, Uusitupa Matti, Eskelinen Matti, Kataja Vesa, Aittomäki Kristiina. 2008. Nature genetics. 40: 844-853 A1 Journal article (refereed), original research

Penetrance analysis of the PALB2 c.1592delT founder mutation

Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja Vesa, Kosma V-M, Xia B, Livingston DM, Wingvist R, Hopper JL. 2008. Clinical cancer research. 14: 4667-4671 A1 Journal article (refereed), original research

A BRCA2 mutation, 4088insA, in a Finnish breast and ovarian cancer family associated with favourable clinical course

Hartikainen JM, Mannermaa A, Heinonen S, Kosma V-M, Kataja V. 2007. Anticancer research. 27: 4295-4300 A1 Journal article (refereed), original research

A common coding variant in CASP8 is associated with breast cancer risk

Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MWR, Pooley KA..., Mannermaa A, Hartikainen J, Kataja V, Kosma V-M, ... Couch FJ .... 2007. Nature genetics. 39: 352-358 A1 Journal article (refereed), original research

A recurrent mutation in PALB2 in Finnish cancer families

Erkko Hannele, Bing Xia, Nikkilä Jenni, Schleutker Johanna, Syrjäkoski Kirsi, Mannermaa Arto, Kallioniemi Anne, Pylkäs Katri, Karppinen Sanna-Maria, Rapakko Katrin, Alexander Miron, Qing Sheng, Guilan Li, Mattila Henna, Daphene W. Bell. 2007. Nature

Genome-wide association study identifies novel breast cancer susceptibility loci

Easton DF, Pooley KA, Dunning AM..., Mannermaa A, Kosma V-M, Kataja V, Hartikainen J. 2007. Nature. 447: 1087-1093 A1 Journal article (refereed), original research

Insulin-degrading enzyme is genetically associated wirh Alzheimer's disease in the finnish population

Vepsäläinen S, Parkinson M, Helisalmi S, Mannermaa A, Soininen H, Tanzi RE, Bertram L, Hiltunen M, Vepsäläinen S, Helisalmi S, Soininen H, Hiltunen M. 2007. Journal of medical genetics. 44: 606-608 A1 Journal article (refereed), original research

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families

Hartikainen JM, Kataja V, Pirskanen M, Arffman A, Ristomaa U, Vahteristo P, Ryynänen M, Heinonen S, Kosma V-M, Mannermaa A. 2007. Clinical genetics. 72: 311-320 A1 Journal article (refereed), original research

Association of CYP46 intron 2 polymorphism in Finnish Alzheimer¿s disease samples and a global scale summary

Helisalmi S, Vepsäläinen S, Koivisto AM, Mannermaa A, Iivonen S, Hiltunen M, Kiviniemi V, Soininen H, Helisalmi S, Vepsäläinen S, Koivisto AM, Iivonen S, Hiltunen M, Soininen H. 2006. Journal of neurology neurosurgery and psychiatry. 77: 421-422 A1 Journal article (refereed), original research

Commonly studied single-nucleotide polymorphism and breast cancer: results from the breast cancer association consortium

The Breast Cancer Association Consortium, Mannermaa A, Kataja V, Kosma V-M. 2006. Journal of the national cancer institute. 98: 1382-1396 A1 Journal article (refereed), original research

Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas

Tuhkanen H, Anttila M, Kosma V-M, Heinonen S, Juhola M, Helisalmi S, Kataja V, Mannermaa A, Helisalmi S. 2006. International journal of cancer. 119: 1345-1353 A1 Journal article (refereed), original research

Refinement of the 22q12-q13 Breast Cancer-Associated Region:Evidence of TMPRSS6 as a Candidate in an Eastern Finnish Population

Hartikainen JM, Tuhkanen H, Kataja V, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2006. Clinical cancer research. 12: 1454-1462 A1 Journal article (refereed), original research

An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in Eastern Finland: three candidate regions found

Hartikainen JM, Tuhkanen H, Kataja V, Dunning AM, Antoniou A, Smith P, Arffman A, Pirskanen M, Easton DF, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2005. Cancer epidemiology biomarkers and prevention. 14: 75-80 A1 Journal article (refereed), original research

Estrogen receptor beta gene variants are associated with increased risk of Alzheimer¿s disease in women

Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2005. European journal of human genetics. 13: 1000-1006 A1 Journal article (refereed), original research

Genetic analysis on BDNF and TrkB gene polymorphisms in Alzheimer's disease

Vepsäläinen S, Castren E, Helisalmi S, Iivonen S, Mannermaa A, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Vepsäläinen S, Helisalmi S, Iivonen S, Soininen H, Hiltunen M. 2005. Journal of neurology. 252: 423-428 A1 Journal article (refereed), original research

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies

The CHEK2 Breast Cancer Case-Control Consortium, Kataja V. 2004. American journal of human genetics. 74: 1175-1182 A1 Journal article (refereed), original research

A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer

Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J, Mannermaa A, Kataja V, Pharoah PDP, Easton DF, Ponder BAJ, Metcalfe JC. 2003. Cancer research. 63: 2610-2615 A1 Journal article (refereed), original research

Apolipoprotein E epsilon4 allele, elevated midlife total cholesterol level, and high midlife systolic blood pressure are independent risk factors for late-life Alzheimer disease

Kivipelto M, Helkala E-L, Laakso MP, Hänninen T, Hallikainen M, Alhainen K, Iivonen S, Mannermaa A, Tuomilehto J, Nissinen A, Soininen H. 2002. Annals of internal medicine. 137: 149-155 A1 Journal article (refereed), original research

Fibrinogen and factor VII promoter polymorphism in women with preeclampsia

Laasanen J, Hiltunen M, Punnonen K, Mannermaa A, Heinonen S. 2002. Obstetrics and gynecology. 100: 317-20 A1 Journal article (refereed), original research

Interleukin 1 alpha gene polymorphism as a suscetibility factor in Alzheimer¿s disease and its influence on the extend of histopathological hallmark lesions of Alzheimer¿s sisease

Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H, Alafuzoff I. 2002. Dementia and geriatric cognitive disorders. 14: 123-127 A1 Journal article (refereed), original research

Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alfa and polycystic ovary syndrome

Korhonen S, Romppanen E-L, Hiltunen M, Mannermaa A, Punnonen K, Hippeläinen M, Heinonen S. 2002. Gynecological endocrinology. 16: 271-274 A1 Journal article (refereed), original research

Midlife income, occupation, APOE status, and dementia

Anttila T, Helkala E-L, Kivipelto M, Hallikainen M, Alhainen K, Heinonen H, Mannermaa A, Tuomilehto J, Soininen H, Nissinen A. 2002. Neurology. 59: 887-893 A1 Journal article (refereed), original research

Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson¿s disease in Finland

Autere JM, Hiltunen MJ, Mannermaa A, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS. 2002. European journal of neurology. 9: 479-483 A1 Journal article (refereed), original research

Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alfa gene polymorphisms in Finnish women with obstetric cholestasis

Eloranta M-L, Heiskanen JTM, Hiltunen MJ, Mannermaa AJ, Punnonen KRA, Heinonen ST. 2002. European journal of obstetrics and gynecology and reproductive biology. 104: 109-112 A1 Journal article (refereed), original research

Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with preeclampsia

Laasanen J, Heinonen S, Hiltunen M, Mannermaa A, Laakso M. 2002. Early human development. 69: 77-82 A1 Journal article (refereed), original research

Polymorphism in the tumor necrosis factor-alpha gene in women with preeclampsia

Heiskanen J, Romppanen E-L, Hiltunen M, Iivonen S, Mannermaa A, Punnonen K, Heinonen S. 2002. Journal of assisted reproduction and genetics. 19: 220-223 A1 Journal article (refereed), original research

Seladin-1 transcription is linked to neuronal degeneration in Alzheimer¿s disease

Iivonen S, Hiltunen M, Alafuzoff I, Mannermaa A, Kerokoski P, Puoliväli J, Salminen A, Helisalmi S, Soininen H. 2002. Neuroscience. 113: 301-310 A1 Journal article (refereed), original research

Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia

Laasanen J, Romppanen E-L, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S. 2002. European journal of human genetics. 10: 569-573 A1 Journal article (refereed), original research

An association between a subset of Finnish late-onset Alzheimer¿s disease and alpha2-macroglobulin

Pirskanen M, Alafuzoff I, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H. 2001. Neurogenetics

Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland

Kallinen J, Heinonen S, Palotie A, Mannermaa A, Ryynanen M. 2001. Prenatal diagnosis. 21: 409-412 A1 Journal article (refereed), original research

Antenatal genetic screening for congenital nephrosis

Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa A. 2001. Prenatal diagnosis. 21: 81-84 A1 Journal article (refereed), original research

Apolipoprotein E alleles in women with polycystic ovary syndrome

Heinonen S, Korhonen S, Hippeläinen M, Hiltunen M, Mannermaa A, Saarikoski S. 2001. Fertility and sterility. 75: 878-880 A1 Journal article (refereed), original research

Apolipoprotein E alleles in women with pre-eclampsia

Makkonen N, Heinonen S, Hiltunen M, Helisalmi S, Mannermaa A, Kirkinen P. 2001. Journal of clinical pathology. 54: 652-654 A1 Journal article (refereed), original research

Genome-wide linkage disequilibrium mapping of late-onset Alzheimr¿s disease in Finland

Hiltunen M, Mannermaa A, Thompson D, Easton D, Pirskanen M, Helisalmi S, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 2001. Neurology. 57: 1663-1668 A1 Journal article (refereed), original research

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA

Finnilä S, Autere J, Lehtovirta M, Hartikainen P, Mannermaa A, Soininen H, Majamaa K. 2001. Journal of medical genetics

Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia

Heiskanen JT, Pirskanen MM, Hiltunen MJ, Mannermaa AJ, Punnonen KR, Heinonen ST. 2001. American journal of obstetrics and gynecology. 185: 600-603 A1 Journal article (refereed), original research

Maternal susceptibility locus for obstetric cholestasis maps to chromosone region 2p13 in finnish patients

Heinonen S, Eloranta M-L, Heiskanen J, Punnonen K, Helisalmi S, Mannermaa A, Hiltunen M. 2001. Scandinavian journal of gastroenterology. 36: 766-770 A1 Journal article (refereed), original research

Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping

Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynänen M. 2001. BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY. 108: 505-509 A1 Journal article (refereed), original research

Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy

Eloranta M-L, Heiskanen J, Hiltunen M, Helisalmi S, Mannermaa A, Heinonen S. 2000. Scandinavian journal of gastroenterology. 35: 966-968 A1 Journal article (refereed), original research

Failure in post-transcriptional processing is a possible inactivation mechanism of AP-2 alfa in cutaneous melanoma

Karjalainen JM, Kellokoski JK, Mannermaa AJ, Kujala HE, Moisio KI, Mitchell PJ, Eskelinen MJ, Alhava EM, Kosma VM. 2000. British journal of cancer. 82: 2015-2021 A1 Journal article (refereed), original research

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer¿s disease family: an Alu core sequence-stimulated recombination?

Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. 2000. European journal of human genetics. 8: 259-266 A1 Journal article (refereed), original research

Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer¿s disease?

Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I, Ryynänen M, Soininen H. 2000. Neuroscience letters. 278: 65-68 A1 Journal article (refereed), original research

Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: correlation to clinicopathological variables

Launonen V, Mannermaa A, Stenbäck F, Kosma V-M, Puistola U, Huusko P, Anttila M, Bloigu R, Saarikoski S, Kauppila A, Winqvist R. 2000. Cancer genetics and cytogenetics. 122: 49-54 A1 Journal article (refereed), original research

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation

Kallinen J, Heinonen S, Mannermaa A, Ryynänen M. 2000. Clinical genetics. 58: 111-115 A1 Journal article (refereed), original research

Severity of cardiovascular disease, apolipoprotein E genotype, and brain pathology in aging and dementia

Alafuzoff I, Helisalmi S, Mannermaa A, Soininen H. 2000. Annals of the New York Academy of Sciences. 903: 244-251 A1 Journal article (refereed), original research

The leucine (7)-to-proline (7) polymorphism in the signal peptide of neuropeptide y is not associated with Alzheimer¿s disease or the link apolipoprotein E

Helisalmi S, Valve R, Karvonen MK, Hiltunen M, Pirskanen M, Mannermaa A, Koulu M, Pesonen U, Uusitupa M, Soininen H. 2000. Neuroscience letters. 287: 25-28 A1 Journal article (refereed), original research

Beta-amyloid load is not influenced by the severity of cardiovascular disease in aged and demented patients

Alafuzoff I, Helisalmi S, Mannermaa A, Riekkinen P Sr, Soininen H. 1999. Stroke. 30: 613-618 A1 Journal article (refereed), original research

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

Ryynänen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Kirkinen P. 1999. European journal of human genetics. 7: 212-216 A1 Journal article (refereed), original research

Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer`s disease patients

Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Helisalmi S, Ryynänen M, Riekkinen P Sr, Soininen H. 1999. European journal of human genetics. 7: 652-658 A1 Journal article (refereed), original research

Promoter polymorphism (-491A/T) in the APOE gene of Finnish Alzheimer¿s disease patients and control individuals

Helisalmi S, Hiltunen M, Valonen P, Mannermaa A, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 1999. Journal of neurology. 246: 821-824 A1 Journal article (refereed), original research

Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer¿s disease patients

Hiltunen M, Mannermaa A, Helisalmi S, Koivisto A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Neuroscience letters. 250: 69-71 A1 Journal article (refereed), original research

Fragiili X-oireyhtymän mutaatioiden seulonta alkuraskauden aikana - tulokset ja äitien mielipiteet geenitestistä

Ryynänen M, Heinonen S, Makkonen M, Mannermaa A, Kirkinen P. 1998. Duodecim. 114: 2323-2329 A1 Journal article (refereed), original research

Longitudinal SPECT study in Alzheimer`s disease: relation to apolipoprotein E polymorphism

Lehtovirta M, Kuikka J, Helisalmi S, Hartikainen P, Mannermaa A, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Journal of neurology neurosurgery and psychiatry. 64: 742-746 A1 Journal article (refereed), original research

Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes

Jäkälä P, Hänninen T, Ryynänen M, Laakso M, Partanen K, Mannermaa A, Soininen H. 1997. Journal of clinical investigation. 100: 331-338 A1 Journal article (refereed), original research

Lack of association between presenilin-1 polymorphism, Alzheimer's disease and apolipoprotein E

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. ALZHEIMER'S RESEARCH. 3: 159-161 A1 Journal article (refereed), original research

No association between alfa1-antichymotrypsin polymorphism, apolipoprotein E and patients with late-onset Alzheimer`s disease

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. Neuroscience letters. 231: 56-58 A1 Journal article (refereed), original research

Apolipoprotein E polymorphism in patients with different neurodegenerative disorders

Helisalmi S, Linnaranta K, Lehtovirta M, Mannermaa A, Heinonen O, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Neuroscience letters. 205: 61-64 A1 Journal article (refereed), original research

Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: relation to apolipoprotein E polymorphism

Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Hartikainen P, Hänninen T, Ryynänen M, Riekkinen PJ Sr. 1996. Neurology. 46: 413-419 A1 Journal article (refereed), original research

Deletion in the FMR1 gene in a fragile-x male

Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S. 1996. American journal of medical genetics. Part A. 64: 293-295 A1 Journal article (refereed), original research

SPECT and MRI analysis in Alzheimer's disease: relation to apolipoprotein E epsilon4 allele

Lehtovirta M, Soininen H, Laakso MP, Partanen K, Helisalmi S, Mannermaa A, Ryynänen M, Kuikka J, Hartikainen P, Riekkinen PJ Sr. 1996. Journal of neurology neurosurgery and psychiatry. 60: 644-649 A1 Journal article (refereed), original research

Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's disease

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Neuroscience letters. 205: 68-70 A1 Journal article (refereed), original research

Spectral analysis of EEG in Alzheimer's disease: relation to apolipoprotein E polymorphism

Lehtovirta M, Partanen J, Könönen M, Soininen H, Helisalmi S, Mannermaa A, Ryynänen M, Hartikainen P, Riekkinen P Sr. 1996. Neurobiology of aging. 17: 523-526 A1 Journal article (refereed), original research

A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein e4 allele

Soininen H, Kosunen O, Helisalmi S, Mannermaa A, Paljärvi L, Talasniemi S, Ryynänen M, Riekkinen P Sr. 1995. Neuroscience letters. 187: 79-82 A1 Journal article (refereed), original research

Alzheimer pathology of patients carrying apolipoprotein E epsilon4 allele

Heinonen O, Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Sorvari H, Kosunen O, Paljärvi L, Ryynänen M, Riekkinen PJ Sr. 1995. Neurobiology of aging. 16: 505-513 A1 Journal article (refereed), original research

Apolipoprotein E polymorphism and Alzheimer's disease in Eastern Finland

Lehtovirta M, Helisalmi S, Mannermaa A, Soininen H, Koivisto K, Ryynänen M, Riekkinen P Sr. 1995. Neuroscience letters. 185: 13-15 A1 Journal article (refereed), original research

Carrier diagnosis of the fragile X syndrome-A challenge in antenatal clinics

Ryynänen M, Kirkinen P, Mannermaa A, Saarikoski S. 1995. American journal of obstetrics and gynecology. 172: 1236-1239 A1 Journal article (refereed), original research

Decreased hippocampal volume asymmetry on MRIs in nondemented elderly subjects carrying the apolipoprotein E epsilon 4 allele

Soininen H, Partanen K, Pitkänen A, Hallikainen M, Hänninen T, Helisalmi S, Mannermaa A, Ryynänen M, Koivisto K, Riekkinen P Sr. 1995. Neurology. 45: 391-392 A1 Journal article (refereed), original research

Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients

Kosunen O, Talasniemi S, Lehtovirta M, Heinonen O, Helisalmi S, Mannermaa A, Paljärvi L, Ryynänen M, Riekkinen PJ Sr, Soininen H. 1995. Stroke. 26: 743-748 A1 Journal article (refereed), original research

Volumes of hippocampus, amygdala and frontal lobe in Alzheimer patients with different apolipoprotein E genotypes

Lehtovirta M, Laakso MP, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Partanen K, Ryynänen M, Vainio P, Hartikainen P, Riekkinen PJ Sr. 1995. Neuroscience. 67: 65-72 A1 Journal article (refereed), original research

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A Multi-View Deep Evidential Learning Approach for Mammogram Density Classification

A dataset of mammography images with area-based breast density values, breast area, and dense tissue segmentation masks

Circulating Micro-RNAs Predict the Risk of Recurrence in Triple-Negative Breast Cancer

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

A FinnGen pilot clinical recall study for Alzheimer’s disease

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

FinnGen provides genetic insights from a well-phenotyped isolated population

Nuclei instance segmentation from histopathology images using Bayesian dropout based deep learning

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Predicting cell type counts in whole slide histology images using evidential multi-task learning

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Suusyövän epigenetiikka

The impact of coding germline variants on contralateral breast cancer risk and survival

The prognostic and predictive role of tumor-infiltrating lymphocytes (FoxP3 + and CD8 +) and tumor-associated macrophages in early HER2 + breast cancer

A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women

Area-based breast percentage density estimation in mammograms using weight-adaptive multitask learning

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Distinct reproductive risk profiles for intrinsic-like breast cancer subtypes: pooled analysis of population-based studies

Expression profiles of small non-coding RNAs in breast cancer tumors characterize clinicopathological features and show prognostic and predictive potential

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Malignant and in situ subtypes of melanoma are associated with basal and squamous cell carcinoma and its precancerous lesions

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Rare germline copy number variants (CNVs) and breast cancer risk

A case-only study to identify genetic modifiers ofbreast cancer risk for BRCA1/BRCA2mutationcarriers

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Genetic insights into biological mechanisms governing human ovarian ageing

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

High Cell-Free DNA Integrity Is Associated with Poor Breast Cancer Survival

High regional mortality due to malignant melanoma in Eastern Finland may be explained by the increase in aggressive melanoma types

Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Multi-level dilated residual network for biomedical image segmentation

Quantitative Three-Dimensional Assessment of the Pharmacokinetic Parameters of Intra- and Peri-tumoural Tissues on Breast Dynamic Contrast-Enhanced Magnetic Resonance Imaging

The debatable presence of PIWI-interacting RNAs in invasive breast cancer

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Cellular hyaluronan is associated with a poor prognosis in renal cell carcinoma

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

High Mutation Burden of Circulating Cell-Free DNA in Early-Stage Breast Cancer Patients Is Associated With a Poor Relapse-Free Survival

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

MicroRNAs Associated With Biological Pathways of Left- And Right-sided Colorectal Cancer

Peritumor to Tumor Apparent Diffusion Coefficient Ratio Is Associated With Biologically More Aggressive Breast Cancer Features and Correlates With the Prognostication Tools

Predicting Breast Cancer Risk Using Interacting Genetic and Demographic Factors and Machine Learning

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Transcriptome-wide Association Study of Breast Cancer Risk by Estrogen-Receptor Status

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association study of germline variants and breast cancer-specific mortality

Homologous recombination DNA repair defects in PALB2-associated breast cancers

Nrf2 and SQSTM1/p62 jointly contribute to mesenchymal transition and invasion in glioblastoma

Shared heritability and functional enrichment across six solid cancers

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Two truncating variants in FANCC and breast cancer risk

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium