Arto Mannermaa
Professor
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences
arto.mannermaa@uef.fi | +358 40 355 2752
Research groups
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Genome Center of Eastern Finland 02.03.2009 - -
Cancer Center of Eastern Finland (CCEF) 01.01.2022 - -
Molecular Pathology and Genetics of Cancer 01.01.2022 - -
North-Savo Skin Cancer Program (NoSCaP)
Projects
Publications
274/274 items-
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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: -
Suusyövän epigenetiikka
Malinen Hanna; Mannermaa Arto; Siponen Maria. 2023. Suomen hammaslääkärilehti. 30: 30-36 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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: -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Gharahkhani, Puya; Jorgenson, Eric; Hysi, Pirro; Khawaja, Anthony P; Pendergrass, Sarah; Han, Xikun; Ong, Jue Sheng; Hewitt, Alex W; Segrè, Ayellet V; Rouhana, John M; Hamel, Andrew R; Igo, Robert P; Choquet, Helene; Qassim, Ayub; Josyula, Navya S; Cooke Bailey, Jessica N; Bonnemaijer, Pieter W M; Iglesias, Adriana; Siggs, Owen M; Young, Terri L et al. [incl FinGen; Mannermaa, Arto; Heikkinen, Sami; Kosma, Veli-Matti]. 2021. Nature communications. 12: 1258 -
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Escala-Garcia, Maria; Canisius, Sander; Keeman, Renske; Beesley, Jonathan; Anton-Culver, Hoda; Arndt, Volker; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bermisheva, Marina; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Couch, Fergus J.; Czene, Kamila et al. [incl. Hartikainen, Jaana M; Mannermaa, Arto]. 2021. Scientific reports. 11: 19787 -
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Zekavat, Seyedeh M.; Lin, Shu-Hong; Bick, Alexander G.; Liu, Aoxing; Paruchuri, Kaavya; Wang, Chen; Uddin, Md Mesbah; Ye, Yixuan; Yu, Zhaolong; Liu, Xiaoxi; Kamatani, Yoichiro; Bhattacharya, Romit; Pirruccello, James P.; Pampana, Akhil; Loh, Po-Ru; Kohli, Puja; McCarroll, Steven A.; Kiryluk, Krzysztof; Neale, Benjamin; Ionita-Laza, Iuliana et al. [incl. Mannermaa, Arto; Heikkinen, Sami; Kosma, Veli-Matti]. 2021. Nature medicine. 27: 1012-1024 -
High Cell-Free DNA Integrity Is Associated with Poor Breast Cancer Survival
Lamminaho, Maria; Kujala, Jouni; Peltonen, Hanna; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto. 2021. Cancers. 13: 4679 -
High regional mortality due to malignant melanoma in Eastern Finland may be explained by the increase in aggressive melanoma types
Suhonen, Ville; Rummukainen, Jaana; Siiskonen, Hanna; Mannermaa, Arto; Harvima, Ilkka T. 2021. Bmc cancer. 21: 1155 -
Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers
Palomäki, Antti; FinnGen Rheumatology Clinical Expert Group; Palotie, Aarno; Koskela, Jukka; Eklund, Kari K; Pirinen, Matti; FinnGen; Ripatti, Samuli; Laitinen, Tarja; Mars, Nina; [incl. collaborators Kosma, Veli-Matti; Mannermaa, Arto; Heikkinen, Sami]. 2021. Annals of the rheumatic diseases. 80: 1530-1536 -
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
Park, HA; Neumeyer, S; Michailidou, K; Bolla, MK; Wang, Q; Dennis, J; Ahearn, TU; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Aronson, KJ; Augustinsson, A; Baten, A; Beane Freeman, LE; Becher, H; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; et al; [incl. Mannermaa, A]. 2021. British journal of cancer. 125: 1135-1145 -
Multi-level dilated residual network for biomedical image segmentation
Gudhe, Naga Raju; Behravan, Hamid; Sudah, Mazen; Okuma, Hidemi; Vanninen, Ritva; Kosma, Veli-Matti; Mannermaa, Arto. 2021. Scientific reports. 11: 14105 -
Quantitative Three-Dimensional Assessment of the Pharmacokinetic Parameters of Intra- and Peri-tumoural Tissues on Breast Dynamic Contrast-Enhanced Magnetic Resonance Imaging
Niukkanen, A; Okuma, H; Sudah, M; Auvinen, P; Mannermaa, A; Liimatainen, T; Vanninen, R. 2021. Journal of digital imaging. 34: 1110-1119 -
The debatable presence of PIWI-interacting RNAs in invasive breast cancer
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
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PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS
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Prognostic value of automated KI67 scoring in breast cancer: A centralised evaluation of 8088 patients from 10 study groups
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RAD51B in Familial Breast Cancer
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rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
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A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients
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Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis
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Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy
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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
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Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk
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Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2
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Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1
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Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium
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Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization
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Identification of Novel Genetic Markers of Breast Cancer Survival
Guo Qi, Schmidt Marjanka K, Kraft Peter, Canisius Sander, Chen Constance, Khan Sofia, Tyrer Jonathan, Bolla Manjeet K, Wang Qin, Dennis Joe, Michailidou Kyriaki, Lush Michael, Kar Siddhartha, Beesley Jonathan, Dunning Alison M, Shah Mitul, Czene Kamila, Darabi Hatef, Eriksson Mikael, Lambrechts Diether et al. (incl. Mannermaa Arto). 2015. Journal of the national cancer institute. 107: djv081 -
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
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KEAP1 Genetic Polymorphisms Associate with Breast Cancer Risk and Survival Outcomes
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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Day Felix R, Ruth Katherine S, Thompson Deborah J, Lunetta Kathryn L, Pervjakova Natalia, Chasman Daniel I, Stolk Lisette, Finucane Hilary K, Sulem Patrick, Bulik-Sullivan Brendan, Esko Tõnu, Johnson Andrew D, Elks Cathy E, Franceschini Nora, He Chunyan, Altmaier Elisabeth, Brody Jennifer A, Franke Lude L, Huffman Jennifer E, Keller Margaux F et al.. 2015. Nature genetics. 47: 1294-1303 -
Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival
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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
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Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
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SIP1 predicts progression and poor prognosis in pharyngeal squamous cell carcinoma
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SNP-SNP interaction analysis of NF-kappaB signaling pathway on breast cancer survival
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The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients
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Vimentin-ERK Signaling Uncouples Slug Gene Regulatory Function
Virtakoivu Reetta, Mai Anja, Mattila Elina, De Franceschi Nicola, Imanishi Susumu Y., Corthals Garry, Kaukonen Riina, Saari Markku, Cheng Fang, Torvaldson Elin, Kosma Veli-Matti, Mannermaa Arto, Muharram Ghaffar, Gilles Christine, Eriksson John, Soini Ylermi, Lorens James B., Ivaska Johanna. 2015. Cancer research. 75: 2349-2362 -
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy
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A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium
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Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
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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 -
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
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Genetic predisposition to in situ and invasive lobular carcinoma of the breast
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Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
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Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
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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 -
Hyaluronan synthases (HAS1-3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival
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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
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Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions
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Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
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MicroRNA Related Polymorphisms and Breast Cancer Risk
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MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen
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Overexpression of MicroRNA-200c Predicts Poor Outcome in Patients with PR-Negative Breast Cancer
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
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Type II Transmembrane Serine Protease Gene Variants Associate with Breast Cancer
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γ -Secretase Components as Predictors of Breast Cancer Outcome
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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
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk
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Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
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The UGT1A6_19_GG genotype is a breast cancer risk factor
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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 -
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 -
9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
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Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
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CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
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Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)
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Genetic Polymorphisms and Protein Expression of NRF2 and Sulfiredoxin Predict Survival Outcomes in Breast Cancer
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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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer.
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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 -
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 -
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 -
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: - -
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 -
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 -
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
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Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
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Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls
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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 -
Association of ESR1 gene tagging SNPs with breast cancer risk
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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 -
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 -
Five polymorphisms and breast cancer risk: results from the breast cancer association consortium
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Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
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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: -
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042
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Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
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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 -
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 -
A BRCA2 mutation, 4088insA, in a Finnish breast and ovarian cancer family associated with favourable clinical course
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A common coding variant in CASP8 is associated with breast cancer risk
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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
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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 -
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 -
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 -
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 -
Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas
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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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
Antenatal genetic screening for congenital nephrosis
Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa A. 2001. Prenatal diagnosis. 21: 81-84 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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