Arto Mannermaa

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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. . 2021. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Nature communications 12 1: 2182. 2021

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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, Vel. 2021. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection Nature medicine 27 6: 1012-1024. 2021

Suhonen, Ville; Rummukainen, Jaana; Siiskonen, Hanna; Mannermaa, Arto; Harvima, Ilkka T. 2021. High regional mortality due to malignant melanoma in Eastern Finland may be explained by the increase in aggressive melanoma types Bmc cancer 21: 1155. 2021

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. Genetic insights into biological mechanisms governing human ovarian ageing Nature 596 7872: 393-397. 2021

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. 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? Cancer 13 10: 2370. 2021

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. Mendelian randomisation study of smoking exposure in relation to breast cancer risk British journal of cancer 125 8: 1135-1145. 2021

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. Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers Annals of the rheumatic diseases 80 12: 1530-1536. 2021

Niukkanen, A; Okuma, H; Sudah, M; Auvinen, P; Mannermaa, A; Liimatainen, T; Vanninen, R. 2021. Quantitative Three-Dimensional Assessment of the Pharmacokinetic Parameters of Intra- and Peri-tumoural Tissues on Breast Dynamic Contrast-Enhanced Magnetic Resonance Imaging Journal of digital imaging 34 5: 1110-1119. 2021

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. Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium Cancer epidemiology biomarkers and prevention 30 4: 623-642. 2021

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Lamminaho, Maria; Kujala, Jouni; Peltonen, Hanna; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto. 2021. High Cell-Free DNA Integrity Is Associated with Poor Breast Cancer Survival Cancers 13 18: 4679. 2021

Kärkkäinen, Emmi; Heikkinen, Sami; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto; Hartikainen, Jaana M. 2021. The debatable presence of PIWI-interacting RNAs in invasive breast cancer Cancer medicine 10 11: 3593 - 3603. 2021

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; Mannerm. 2021. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers British journal of cancer 124 4: 842-854. 2021

Gudhe, Naga Raju; Behravan, Hamid; Sudah, Mazen; Okuma, Hidemi; Vanninen, Ritva; Kosma, Veli-Matti; Mannermaa, Arto. 2021. Multi-level dilated residual network for biomedical image segmentation Scientific reports 11 1: 14105. 2021

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, Sam. 2021. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries Nature communications 12 1: 1258. 2021

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. 2021. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis Scientific reports 11: 19787. 2021

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;. 2021. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women The new england journal of medicine 384 5: 428-439. 2021

Kujala, J; Hartikainen, JM; Tengström, M; Sironen, R; Kosma, VM; Mannermaa, A. 2020. High Mutation Burden of Circulating Cell-Free DNA in Early-Stage Breast Cancer Patients Is Associated With a Poor Relapse-Free Survival Cancer medicine 9 16: 5922-5931. 2020

Zhang, Haoyu; Ahearn, Thomas U; Lecarpentier, Julie; Barnes, Daniel; Beesley, Jonathan; Qi, Guanghao; Jiang, Xia; O'Mara, Tracy A; Zhao, Ni; Bolla, Manjeet K; Dunning, Alison M; Dennis, Joe; Wang, Qin; Ful, Zumuruda Abu; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Arun, Banu K et al [incl Mannermaa, Arto]. 2020. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses Nature genetics 52: 572-581. 2020

Okuma, H; Sudah, M; Kettunen, T; Niukkanen, A; Sutela, A; Masarwah, A; Kosma, VM; Auvinen, P; Mannermaa, A; Vanninen, R. 2020. Peritumor to Tumor Apparent Diffusion Coefficient Ratio Is Associated With Biologically More Aggressive Breast Cancer Features and Correlates With the Prognostication Tools PLoS ONE 15 6: e0235278. 2020

Mars, Nina; Widén, Elisabeth; Kerminen, Sini; Meretoja, Tuomo; Pirinen, Matti; Parolo, Pietro della Briotta; Palta, Priit; FinnGen, Palotie, Aarno; Kaprio, Jaakko; Joensuu, Heikki; Daly, Mark; Ripatti, Samuli [incl. Hiltunen, Mikko; Heikkinen, Sami; Julkunen, Valtteri; Kosma, Veli-Matti; Mannermaa, Arto; Kälviäinen, Reetta]. 2020. The role of polygenic risk and susceptibility genes in breast cancer over the course of life Nature communications 11 1: 6383. 2020

Liu, Jingjing; Prager-van der Smissen, Wendy J C; Collée, J Margriet; Bolla, Manjeet K; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Ahearn, Thomas U; Aittomäki, Kristiina; Ambrosone, Christine B; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J; Augustinsson, Annelie; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W et al. [Incl. 2020. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk Scientific reports 10 1: 9688. 2020

Kramer, Iris; Hooning, Maartje J; Mavaddat, Nasim; Hauptmann, Michael; Keeman, Renske; Steyerberg, Ewout W; Giardiello, Daniele; Antoniou, Antonis C; Pharoah, Paul D P; Canisius, Sander; Abu-Ful, Zumuruda; Andrulis, Irene L; Anton-Culver, Hoda; Aronson, Kristan J; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; et al. (incl. Mannerm. 2020. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk American journal of human genetics 107 5: 837-848. 2020

Jokelainen, Otto; Pasonen-Seppänen, Sanna; Tammi, Markku; Mannermaa, Arto; Aaltomaa, Sirpa; Sironen, Reijo; Nykopp, Timo K. 2020. Cellular hyaluronan is associated with a poor prognosis in renal cell carcinoma Urologic oncology: seminars and original investigations 38 8: 686.e11-686.e22. 2020

Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-Full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J; Arun, Banu K; Asseryanis, Ella; Auer, Paul L; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R et al [incl Mannermaa, Arto]. 2020. Transcriptome-wide Association Study of Breast Cancer Risk by Estrogen-Receptor Status Genetic epidemiology 44 5: 442-468. 2020

Fachal, L; Aschard, H; Beesley, J; Barnes, DR; Allen, J; Kar, S; Pooley, KA; Dennis, J; Michailidou, K; Turman, C; Soucy, P; Lemaçon, A; Lush, M; Tyrer, JP; Ghoussaini, M; Marjaneh, MM; Jiang, X; Agata, S; Aittomäki, K; Alonso, MR; et al. [incl. Hartikainen, J; Kosma, VM; Mannermaa, A; Tengström, M]. 2020. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes Nature genetics 52: 56-73. 2020

Escala-Garcia, M; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; Ashworth, A; Auer, PL; Auvinen, P; Beckmann, MW; Beesley, J; Behrens, S; Benitez, J; Bermisheva, M; Blomqvist, C; Blot, W; Bogdanova, NV; Bojesen, SE; Bolla, MK; Børresen-Dale, AL; Brauch, H; et al. (incl. Mannermaa, A; Auvinen, P). 2020. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis Nature communications 11 1: 312. 2020

Eneh, Stralina; Heikkinen, Sami; Hartikainen, Jaana M; Kuopio, Teijo; Mecklin, Jukka-Pekka; Kosma, Veli-Matti; Mannermaa, Arto. 2020. MicroRNAs Associated With Biological Pathways of Left- And Right-sided Colorectal Cancer Anticancer research 40 7: 3713-3722. 2020

Behravan, Hamid; Hartikainen, Jaana M; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto. 2020. Predicting Breast Cancer Risk Using Interacting Genetic and Demographic Factors and Machine Learning Scientific reports 10 1: 11044. 2020

Bao, Erik L; Nandakumar, Satish K; Liao, Xiaotian; Bick, Alexander G; Karjalainen, J; Tabaka, Marcin; Gan, Olga I; Havulinna, Aki S; Kiiskinen, Tuomo TJ; Lareau, Caleb A; de Lapuente Portilla, Aitzkoa L; Li, Bo; Emdin, Connor; Codd, Veryan; Nelson, Christopher P; Walker, Christopher J; Churchhouse, Claire; de la Chapelle, Albert; Klein, Daryl E; et al. (incl. Kosma, V-M; Heikkinen, S; Mannermaa, A. 2020. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells Nature 586 7831: 769-775. 2020

Li, A; Geyer, FC; Blecua, P; Lee, JY; Selenica, P; Brown, DN; Pareja, F; Lee, SSK; Kumar, R; Rivera, B; Bi, R; Piscuoglio, S; Wen, HY; Lozada, JR; Gularte-Mérida, R; Cavallone, L; Rezoug, Z; Nguyen-Dumont, T; Peterlongo, P; Tondini, C; Terkelsen, T: et al. (incl. Mannermaa, A). 2019. Homologous recombination DNA repair defects in PALB2-associated breast cancers npj breast cancer 5: 23. 2019

Yang, X; Leslie, G; Doroszuk, A; Schneider, S; Allen, J; Decker, B; Dunning, AM; Redman, J; Scarth, J; Plaskocinska, I; Luccarini, C; Shah, M; Pooley, K; Dorling, L; Lee, A; Adank, MA; Adlard, J; Aittomäki, K; Andrulis, IL; Ang, P; et al. [incl. Mannermaa, A]. 2019. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families Journal of clinical oncology 2020; 38 7: 674-685. 2019

Pölönen, P; Jawahar Deen, A; Leinonen, HM; Jyrkkänen, HK; Kuosmanen, S; Mononen, M; Jain, A; Tuomainen, T; Pasonen-Seppänen, S; Hartikainen, JM; Mannermaa, A; Nykter, M; Tavi, P; Johansen, T; Heinäniemi, M; Levonen, AL. 2019. Nrf2 and SQSTM1/p62 jointly contribute to mesenchymal transition and invasion in glioblastoma Oncogene 38: 7473-7490. 2019

Tabassum, Rubina; Ramo, Joel T; Ripatti, Pietari; Koskela, Jukka T; Kurki, Mitja; Karjalainen, Juha; Palta, Priit; Hassan, Shabbeer; Nunez-Fontarnau, Javier; Kiiskinen, Tuomo T J; Söderlund, Sanni; Matikainen, Niina; Gerl, Mathias J; Surma, Michal A; Klose, Christian; Stitziel, Nathan O; Laivuori, Hannele; Havulinna, Aki S; Service, Susan K; Salomaa, Veikko et al. (Incl Mannermaa, Arto; Heikkinen,. 2019. Genetic architecture of human plasma lipidome and its link to cardiovascular disease Nature communications 10: 4329. 2019

Jiang, X; Finucane, HK; Schumacher, FR; Schmit, SL; Tyrer, JP; Han, Y; Michailidou, K; Lesseur, C; Kuchenbaecker, KB; Dennis, J; Conti, DV; Casey, G; Gaudet, MM; Huyghe, JR; Albanes, D; Aldrich, MC; Andrew, AS; Andrulis, IL; Anton-Culver, H; Antoniou, AC; et al. (Incl. Mannermaa, Arto). 2019. Shared heritability and functional enrichment across six solid cancers Nature communications 10 1: 431. 2019

Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Viz Lasheras, Sandra; Pujol, Roser; Kiiski, Johanna, I; Muranen, Taru A; Barnes, Daniel R; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Leslie, Gaska; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A; Ahearn, Thomas et al. (Incl Auvinen, Päivi; Mannermaa, Arto). 2019. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer npj breast cancer 5: 38. 2019

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Dörk, T; Peterlongo, P; Mannermaa, A; Bolla, MK; Wang, Q; Dennis, J; Ahearn, T; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Augustinsson, A; Freeman, LEB; Beckmann, MW; Beeghly-Fadiel, A; Behrens, S; Bermisheva, M; Blomqvist, C; Bogdanova, NV; Bojesen, SE; et al.. 2019. Two truncating variants in FANCC and breast cancer risk Scientific reports 9 1: 12524. 2019

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Wu, L; Shi, W; Long, J; Guo, X; Michailidou, K; Beesley, J; Bolla, MK; Shu, X-O; Lu, Y; Cai, Q; Al-Ejeh, F; Rozali, E; Wang, Q; Dennis, J; Li, B; Zeng, C; Feng, H; Gusev, A; Barfield, RT; Andrulis, IL; et al. [Incl Kosma, Veli-Matti; Mannermaa, Arto]. 2018. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer Nature genetics 50: 968-978. 2018

Tervasmäki, Anna; Mantere, Tuomo; Hartikainen, Jaana M; Kauppila, Salla; Lee, Hang-Mao; Koivuluoma, Susanna; Grip, Mervi; Karihtala, Peeter; Jukkola-Vuorinen, Arja; Mannermaa, Arto; Winqvist, Robert; Pylkäs, Katri. 2018. Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer International journal of cancer 142 11: 2286-2292. 2018

Rudolph, A; Song, M; Brook, MN; Milne, RL; Mavaddat, N; Michailidou, K; Bolla, MK; Wang, Q; Dennis, J; Wilcox, AN; Hopper, JL; Southey, MC; Keeman, R; Fasching, PA; Beckmann, MW; Gago-Dominguez, M; Castelao, JE; Guénel, P; Truong, T; Bojesen, SE; et al. [Incl. Kosma, V-M]. 2018. Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium International journal of epidemiology 47 2: 526-536. 2018

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Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, M; Li, H;, De Vecchi, G; Tudini, E; Foglia, C; Mondini, P; Manoukian, S; Behar, R; Garcia, EBG; Meindl, A; Montagna, M; Niederacher, D; Schmidt, AY; Varesco, L; Wappenschmidt, B; Bolla, M; et al. [Incl Mannermaa, Arto; Kosma, Veli-Matti]. 2018. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity Human mutation 39 5: 729-741. 2018

Behravan, Hamid; Hartikainen, Jaana M; Tengström, Maria; Pylkäs, Katri; Winqvist, Robert; Kosma, Veli-Matti; Mannermaa, Arto. 2018. Machine learning identifies interacting genetic variants contributing to breast cancer risk: a case study in Finnish cases and controls Scientific Reports 8: 13149. 2018

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Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO, Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blot W, Bogdanova N et al.. 2015. Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 24 1680: -. 2015

Hartikainen Jaana M, Tengström Maria, Winqvist Robert, Jukkola-Vuorinen Arja, Pylkäs Katri, Kosma Veli-Matti, Soini Ylermi, Mannermaa Arto. 2015. KEAP1 Genetic Polymorphisms Associate with Breast Cancer Risk and Survival Outcomes. CLINICAL CANCER RESEARCH 21 onlinefirst January 14, 2015: -. 2015

Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord,Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K. Bolla, Joe Dennis, Qin Wang, Sander Canisius, Christopher G. Scott, Carmel Apicella, John L. Hopper, Melissa C. Southey, Jennifer Stone, Annegien Broeks, Marjanka K. Schmidt et al (incl. Veli-Matti Kosma, Arto Mannermaa). 2015. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. AMERICAN JOURNAL OF HUMAN GENETICS 97 1: 22-34. 2015

Jamshidi Maral, Fagerholm Rainer, Khan Sofia, Aittomäki Kristiina, Czene Kamila, Darabi Hatef, Li Jingmei, Andrulis Irene L, Chang-Claude Jenny, Devilee Peter, Fasching Peter A, Michailidou Kyriaki, Bolla Manjeet K, Dennis Joe, Wang Qin, Guo Qi, Rhenius Valerie, Cornelissen Sten, Rudolph Anja, Knight Julia A et al. 2015. SNP-SNP interaction analysis of NF-kappaB signaling pathway on breast cancer survival. Oncotarget 6 35: 37979-37994. 2015

Jouppila-Mättö Anna, Mannermaa Arto, Sironen Reijo, Kosma Veli-Matti, Soini Ylermi, Pukkila Matti. 2015. SIP1 predicts progression and poor prognosis in pharyngeal squamous cell carcinoma. HISTOLOGY AND HISTOPATHOLOGY 30: 569-579. 2015

Tuomarila M, Luostari K, Soini Y, Kataja V, Kosma VM, Mannermaa A. 2014. Overexpression of MicroRNA-200c Predicts Poor Outcome in Patients with PR-Negative Breast Cancer. PLOS ONE [ONLINE] 9 10: e109508: 1-8. 2014

Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Soini Ylermi, Hirvonen Ari, Kataja Vesa. 2014. MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen. ACTA ONCOLOGICA 53 6: 769-775. 2014

Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Hirvonen Ari, Kataja Vesa. 2014. XRCC1 rs25487 polymorphism predicts the survival of patients after postoperative radiotherapy and adjuvant chemotherapy for breast cancer. ANTICANCER RESEARCH 34 6: 3031-3037. 2014

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. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. BREAST CANCER RESEARCH [ONLINE: HTTP://BREAST-CANCER-RESEARCH.COM/] 16: 3419. 2014

Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H,..., Mannermaa A, Kataja V, Kosma VM, Hartikainen J, et al.. 2014. 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. HUMAN MOLECULAR GENETICS 23 7: 1934-1946. 2014

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, Hartikain. 2014. Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLOS GENETICS [ONLINE) 10 4: e1004285. 2014

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. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. INTERNATIONAL JOURNAL OF CANCER 136 6: E685-E696. 2014

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. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade. HUMAN MOLECULAR GENETICS 23 22: 6034-6046. 2014

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,. 2014. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer. CARCINOGENESIS 35 5: 1012-1019. 2014

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. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NATURE (LONDON) 514 7520: 92-97. 2014

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. Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. GENETIC EPIDEMIOLOGY 38 1: 84-93. 2014

Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Zamora MP, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Pita G, Alonso MR, Dennis J, Wang Q, Bolla MK, Swerdlow A, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. HUMAN MOLECULAR GENETICS 23 22: 6096-6111. 2014

Luostari Kaisa, Hartikainen Jaana M, Tengström Maria, Palvimo Jorma J, Kataja Vesa, Mannermaa Arto, Kosma Veli-Matti. 2014. Type II Transmembrane Serine Protease Gene Variants Associate with Breast Cancer. PLOS ONE [ONLINE] 9 7: e102519. 2014

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. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. HUMAN MOLECULAR GENETICS 2014: 1-14. 2014

Li Jingmei, Lindström Linda S, Foo Jia N, Rafiq Sajjad, Schmidt Marjanka K, Pharoah Paul DP, Michailidou Kyriaki, Dennis Joe, Bolla Manjeet K, Wang Qin, Van 't Veer Laura J, Cornelissen Sten, Rutgers Emiel, Southey Melissa C, Apicella Carmen, Dite Gillian S, Hopper John S, Fasching Peter A, Haeberle Lothar, Ekici Arif B et al. 2014. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy. Nature Communications 5: 4051. 2014

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. MicroRNA Related Polymorphisms and Breast Cancer Risk. PLOS ONE [ONLINE] 9 11: e109973 (1-12). 2014

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. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. BREAST CANCER RESEARCH AND TREATMENT 16 3: R51. 2014

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. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nature Communications 4: Article number:4999. 2014

Auvinen Päivi, Rilla Kirsi, Tumelius Ritva, Tammi Markku, Sironen Reijo, Soini Ylermi, Kosma Veli-Matti, Mannermaa Arto, Viikari Jukka, Tammi Raija. 2014. Hyaluronan synthases (HAS1-3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival. BREAST CANCER RESEARCH AND TREATMENT 143 2: 277-286. 2014

Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernste. 2014. Breast-cancer risk in families with mutations in PALB2. NEW ENGLAND JOURNAL OF MEDICINE 371 6: 497-506. 2014

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. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. BRITISH JOURNAL OF CANCER 110 4: 1088-1100. 2014

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. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. CLINICAL GENETICS (COPENHAGEN) 88: 68-73. 2014

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. Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. AMERICAN JOURNAL OF HUMAN GENETICS 93: 1046-1060. 2013

Tuhkanen H, Hartikainen JM, Soini Y, Velasco G, Sironen R, Nykopp TK, Kataja V, Eskelinen M, Kosma VM, Mannermaa A.. 2013. Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer INTERNATIONAL JOURNAL OF CANCER 133 10: 2334-2340. 2013

Peltonen HM, Haapasalo A, Hiltunen M, Kataja V, Kosma VM, Mannermaa A. 2013. γ-Secretase Components as Predictors of Breast Cancer Outcome. PLOS ONE [ONLINE] 8 11: e79249, 1-13. 2013

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. 2013. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.. PLOS GENETICS [ONLINE) 9 3: e1003284. 2013

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. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NATURE GENETICS 45 4: 353-61. 2013

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 Netwo. 2013. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLOS GENETICS [ONLINE) 9 3: e1003173. 2013

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. The UGT1A6_19_GG genotype is a breast cancer risk factor. Frontiers in genetics 4 104: 1-6. 2013

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. 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. BREAST CANCER RESEARCH AND TREATMENT 138 2: 529-42. 2013

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. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NATURE GENETICS 45 4: 392-8. 2013

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. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. AMERICAN JOURNAL OF HUMAN GENETICS 92 4: 489-503. 2013

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. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. NATURE GENETICS 45 4: 371-84. 2013

Malinen M, Jääskeläinen T, Pelkonen M, Heikkinen S, Väisänen S, Kosma VM, Nieminen K, Mannermaa A, Palvimo JJ. 2012. Proto-oncogene PIM-1 is a novel estrogen receptor target associating with high grade breast tumors Molecular and cellular endocrinology 2013; 365 2: 270-276. 2012

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. PREDICT Plus: Development and validation of a prognostic model for early breast cancer that includes HER2. BRITISH JOURNAL OF CANCER 107 5: 800-807. 2012

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. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. JOURNAL OF CLINICAL ONCOLOGY 30 35: 4308-16. 2012

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. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 21 10: 1783-1791. 2012

Tengström M, Mannermaa A, Kosma V-M, Hirvonen A, Kataja V. 2012. SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in breast cancer?. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 12: 257. 2012

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. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. SCIENCE TRANSLATIONAL MEDICINE 4 122: 122-123. 2012

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. 19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus. CANCER RESEARCH 72: 1795-1803. 2012

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. 11q13 is a susceptibility locus for hormone receptor positive breast cancer. HUMAN MUTATION 33 7: 1123-1132. 2012

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. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC). PLOS ONE [ONLINE] 7 8: -. 2012

Hartikainen JM,Tengström M, Kosma VM, Kinnula VL, Mannermaa A, Soini Y.. 2012. Genetic Polymorphisms and Protein Expression of NRF2 and Sulfiredoxin Predict Survival Outcomes in Breast Cancer. CANCER RESEARCH 72 21: 5537-5546. 2012

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. Genome-wide association analysis identifies three new breast cancer susceptibility loci. NATURE GENETICS 44 3: 312-318. 2012

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. The role of genetic breast cancer susceptibility variants as prognostic factors. HUMAN MOLECULAR GENETICS 21 17: 3926-3939. 2012

Berdel B, Nieminen K, Soini Y, Tengström M, Malinen M, Kosma VM, Palvimo J, Mannermaa A. 2012. Histone demethylase GASC1 - a potential prognostic and predictive marker in invasive breast cancer.. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 12 516: e1-15. 2012

Auvinen P, Tammi R, Kosma VM, Sironen R, Soini Y, Mannermaa A, Tumelius R, Uljas E, Tammi M. 2012. Increased hyaluronan content and stromal cell CD44 associate with HER2 positivity and poor prognosis in human breast cancer. INTERNATIONAL JOURNAL OF CANCER 132 3: 531-539. 2012

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. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 PLOS ONE [ONLINE] 7 6: e35706. 2012

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. 7q21-rs6964587 and breast cancer risk: an extended case¿control study by the Breast Cancer Association Consortium JOURNAL OF MEDICAL GENETICS 48 10: 698-702. 2011

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. Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies. JOURNAL OF THE NATIONAL CANCER INSTITUTE 103 3: 250-263. 2011

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, Pectasid. 2011. Common breast cancer susceptibility loci are associated with triple-negative breast cancer. CANCER RESEARCH 71 19: 6240-6249. 2011

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, Burwi. 2011. Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. BRITISH JOURNAL OF CANCER 105 12: 1934-9. 2011

Soini Ylermi, Tuhkanen Hanna, Sironen Reijo, Virtanen Ismo, Kataja Vesa, Auvinen Päivi, Mannermaa Arto, Kosma Veli-Matti. 2011. Transcription factors zeb1, twist and snai1 in breast carcinoma BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 11 11: -. 2011

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. Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. BREAST CANCER RESEARCH AND TREATMENT 130 3: 1003-10. 2011

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, Sout. 2011. Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 20 10: 2222-2231. 2011

Jouppila-Mättö A, Tuhkanen H, Soini Y, Pukkila M, Närkiö-Mäkelä M, Sironen R, Virtanen I, Mannermaa A, Kosma V-M. 2011. Transcription of factor snail1 expression and poor survival in pharyngeal squamous cell carcinoma. HISTOLOGY AND HISTOPATHOLOGY 26: 443-449. 2011

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, Ed. 2011. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer NATURE GENETICS 43 12: 1210-1214. 2011

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, Z. 2011. 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. HUMAN MOLECULAR GENETICS 20 23: 4693-4706. 2011

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. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. HUMAN MOLECULAR GENETICS 20 16: 3289-3303. 2011

Juoppila-Mättö Anna, Närkiö-Mäkelä Mervi, Soini Ylermi, Pukkila Matti, Sironen Reijo, Tuhkanen Hanna, Mannermaa Arto, Kosma Veli-Matti. 2011. Twist and snai1 expression in pharyngeal squamous cell carcinoma stroma is related to cancer progression BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 11: 350. 2011

Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, et.al.. 2010. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. JOURNAL OF THE NATIONAL CANCER INSTITUTE 102 9: 650-662. 2010

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. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 19 9: 2143-2151. 2010

Kauppinen J, Kosma V-M, Soini Y, Sironen R, Nissinen M, Nykopp T, Kärjä V, Eskelinen M, Kataja V, Mannermaa A. 2010. ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 19 9: 2133-2142. 2010

Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ & et al. 2010. 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 BREAST CANCER RESEARCH [ONLINE: HTTP://BREAST-CANCER-RESEARCH.COM/] 12 6: 110. 2010

Milne RL, Benítez J, Nevanlinna H, Heikkinen T..., Mannermaa A, Kataja V, Kosma V-M. 2009. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042 JOURNAL OF THE NATIONAL CANCER INSTITUTE 101 14: 1012-1018. 2009

Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttilä T, Soininen H, Hiltunen M, Helisalmi S, Pirttilä T, Soininen H, Hiltunen M. 2009. Combined risk effects of IDE and NEP gene variants on Alzheimer disease. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 80: 1268-1270. 2009

Tuhkanen H, Soini Y, Kosma V-M, Anttila M, Sironen R, Hämäläinen K, Kukkonen L, Virtanen I, Mannermaa A. 2009. Nuclear expression of Snail1 in borderline and malignant epithelial ovarian tumours is associated with tumour progression. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 9 289. 2009

Alafuzoff I, Aho L, Helisalmi S, Mannermaa A, Soininen H, Soininen H. 2009. Beta-amyloid deposition in brains of subjects with diabetes NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 1: 60-68. 2009

Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL..., Mannermaa A, Kataja V, Kosma V-M, Lindblom SM...et al. 2009. Five polymorphisms and breast cancer risk: results from the breast cancer association consortium. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 18 5: 1610-1616. 2009

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. Association of ESR1 gene tagging SNPs with breast cancer risk. HUMAN MOLECULAR GENETICS 18 6: 1131-1139. 2009

Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Mannermaa A, Kosma V-M, Kataja V, ...Easton DF. 2009. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. NATURE GENETICS 41 5: 585-590. 2009

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. Penetrance analysis of the PALB2 c.1592delT founder mutation. CLINICAL CANCER RESEARCH 14 14: 4667-4671. 2008

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. NAD(P)H:quinone oxidoreductase 1 NQ01*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. NATURE GENETICS 40 7: 844-853. 2008

Garcia-Closas M, Hall P, Nevanlinna H ..., Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma V-M, Kataja V, Chenevix-Trench G .... 2008. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLOS GENETICS [ONLINE) 4 4: [e1000054]. 2008

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. Insulin-degrading enzyme is genetically associated wirh Alzheimer's disease in the finnish population JOURNAL OF MEDICAL GENETICS 44: 606-608. 2007

Hartikainen JM, Mannermaa A, Heinonen S, Kosma V-M, Kataja V. 2007. A BRCA2 mutation, 4088insA, in a Finnish breast and ovarian cancer family associated with favourable clinical course. ANTICANCER RESEARCH 27: 4295-4300. 2007

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. A recurrent mutation in PALB2 in Finnish cancer families. NATURE (LONDON) 446: 316-319. 2007

Hartikainen JM, Kataja V, Pirskanen M, Arffman A, Ristomaa U, Vahteristo P, Ryynänen M, Heinonen S, Kosma V-M, Mannermaa A. 2007. Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families CLINICAL GENETICS (COPENHAGEN) 72: 311-320. 2007

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. A common coding variant in CASP8 is associated with breast cancer risk. NATURE GENETICS 39 3: 352-358. 2007

Easton DF, Pooley KA, Dunning AM..., Mannermaa A, Kosma V-M, Kataja V, Hartikainen J. 2007. Genome-wide association study identifies novel breast cancer susceptibility loci NATURE (LONDON) 447: 1087-1093. 2007

Hartikainen JM, Tuhkanen H, Kataja V, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2006. Refinement of the 22q12-q13 Breast Cancer-Associated Region:Evidence of TMPRSS6 as a Candidate in an Eastern Finnish Population CLINICAL CANCER RESEARCH 12 5: 1454-1462. 2006

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. Association of CYP46 intron 2 polymorphism in Finnish Alzheimer¿s disease samples and a global scale summary. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 77: 421-422. 2006

The Breast Cancer Association Consortium, Mannermaa A, Kataja V, Kosma V-M. 2006. Commonly studied single-nucleotide polymorphism and breast cancer: results from the breast cancer association consortium. JOURNAL OF THE NATIONAL CANCER INSTITUTE 98 19: 1382-1396. 2006

Tuhkanen H, Anttila M, Kosma V-M, Heinonen S, Juhola M, Helisalmi S, Kataja V, Mannermaa A, Helisalmi S. 2006. Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas. INTERNATIONAL JOURNAL OF CANCER 119: 1345-1353. 2006

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. Genetic analysis on BDNF and TrkB gene polymorphisms in Alzheimer's disease. JOURNAL OF NEUROLOGY 252: 423-428. 2005

Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2005. Estrogen receptor beta gene variants are associated with increased risk of Alzheimer¿s disease in women EUROPEAN JOURNAL OF HUMAN GENETICS 13: 1000-1006. 2005

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. An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in Eastern Finland: three candidate regions found. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 14 1: 75-80. 2005

The CHEK2 Breast Cancer Case-Control Consortium, Kataja V. 2004. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. AMERICAN JOURNAL OF HUMAN GENETICS 74: 1175-1182. 2004

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. A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer CANCER RESEARCH 63: 2610-2615. 2003

Korhonen S, Romppanen E-L, Hiltunen M, Mannermaa A, Punnonen K, Hippeläinen M, Heinonen S. 2002. Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alfa and polycystic ovary syndrome. GYNECOLOGICAL ENDOCRINOLOGY 16: 271-274. 2002

Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H, Alafuzoff I. 2002. 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. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS 14: 123-127. 2002

Laasanen J, Romppanen E-L, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S. 2002. Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia EUROPEAN JOURNAL OF HUMAN GENETICS 10: 569-573. 2002

Laasanen J, Hiltunen M, Punnonen K, Mannermaa A, Heinonen S. 2002. Fibrinogen and factor VII promoter polymorphism in women with preeclampsia. OBSTETRICS AND GYNECOLOGY 100: 317-20. 2002

Laasanen J, Heinonen S, Hiltunen M, Mannermaa A, Laakso M. 2002. Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with preeclampsia. EARLY HUMAN DEVELOPMENT 69: 77-82. 2002

Autere JM, Hiltunen MJ, Mannermaa A, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS. 2002. Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson¿s disease in Finland. EUROPEAN JOURNAL OF NEUROLOGY 9 5: 479-483. 2002

Kivipelto M, Helkala E-L, Laakso MP, Hänninen T, Hallikainen M, Alhainen K, Iivonen S, Mannermaa A, Tuomilehto J, Nissinen A, Soininen H. 2002. Apolipoprotein E epsilon4 allele, elevated midlife total cholesterol level, and high midlife systolic blood pressure are independent risk factors for late-life Alzheimer disease. ANNALS OF INTERNAL MEDICINE 137: 149-155. 2002

Iivonen S, Hiltunen M, Alafuzoff I, Mannermaa A, Kerokoski P, Puoliväli J, Salminen A, Helisalmi S, Soininen H. 2002. Seladin-1 transcription is linked to neuronal degeneration in Alzheimer¿s disease. NEUROSCIENCE 113 2: 301-310. 2002

Heiskanen J, Romppanen E-L, Hiltunen M, Iivonen S, Mannermaa A, Punnonen K, Heinonen S. 2002. Polymorphism in the tumor necrosis factor-alpha gene in women with preeclampsia JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 19 5: 220-223. 2002

Eloranta M-L, Heiskanen JTM, Hiltunen MJ, Mannermaa AJ, Punnonen KRA, Heinonen ST. 2002. Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alfa gene polymorphisms in Finnish women with obstetric cholestasis. EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY AND REPRODUCTIVE BIOLOGY 104: 109-112. 2002

Anttila T, Helkala E-L, Kivipelto M, Hallikainen M, Alhainen K, Heinonen H, Mannermaa A, Tuomilehto J, Soininen H, Nissinen A. 2002. Midlife income, occupation, APOE status, and dementia NEUROLOGY 59: 887-893. 2002

Kallinen J, Heinonen S, Palotie A, Mannermaa A, Ryynanen M. 2001. Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. PRENATAL DIAGNOSIS 21: 409-412. 2001

Makkonen N, Heinonen S, Hiltunen M, Helisalmi S, Mannermaa A, Kirkinen P. 2001. Apolipoprotein E alleles in women with pre-eclampsia JOURNAL OF CLINICAL PATHOLOGY 54: 652-654. 2001

Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynänen M. 2001. Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping. BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY 108: 505-509. 2001

Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa A. 2001. Antenatal genetic screening for congenital nephrosis PRENATAL DIAGNOSIS 21: 81-84. 2001

Pirskanen M, Alafuzoff I, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H. 2001. An association between a subset of Finnish late-onset Alzheimer¿s disease and alpha2-macroglobulin. NEUROGENETICS 3: 171-172. 2001

Hiltunen M, Mannermaa A, Thompson D, Easton D, Pirskanen M, Helisalmi S, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 2001. Genome-wide linkage disequilibrium mapping of late-onset Alzheimr¿s disease in Finland. NEUROLOGY 57: 1663-1668. 2001

Heiskanen JT, Pirskanen MM, Hiltunen MJ, Mannermaa AJ, Punnonen KR, Heinonen ST. 2001. Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 185: 600-603. 2001

Heinonen S, Korhonen S, Hippeläinen M, Hiltunen M, Mannermaa A, Saarikoski S. 2001. Apolipoprotein E alleles in women with polycystic ovary syndrome. FERTILITY AND STERILITY 75 5: 878-880. 2001

Heinonen S, Eloranta M-L, Heiskanen J, Punnonen K, Helisalmi S, Mannermaa A, Hiltunen M. 2001. Maternal susceptibility locus for obstetric cholestasis maps to chromosone region 2p13 in finnish patients. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY 36: 766-770. 2001

Finnilä S, Autere J, Lehtovirta M, Hartikainen P, Mannermaa A, Soininen H, Majamaa K. 2001. Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA. JOURNAL OF MEDICAL GENETICS 38 6: 400-405. 2001

Launonen V, Mannermaa A, Stenbäck F, Kosma V-M, Puistola U, Huusko P, Anttila M, Bloigu R, Saarikoski S, Kauppila A, Winqvist R. 2000. Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: correlation to clinicopathological variables. CANCER GENETICS AND CYTOGENETICS 122: 49-54. 2000

Karjalainen JM, Kellokoski JK, Mannermaa AJ, Kujala HE, Moisio KI, Mitchell PJ, Eskelinen MJ, Alhava EM, Kosma VM. 2000. Failure in post-transcriptional processing is a possible inactivation mechanism of AP-2 alfa in cutaneous melanoma BRITISH JOURNAL OF CANCER 82 12: 2015-2021. 2000

Kallinen J, Heinonen S, Mannermaa A, Ryynänen M. 2000. Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation. CLINICAL GENETICS (COPENHAGEN) 58: 111-115. 2000

Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. 2000. 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? EUROPEAN JOURNAL OF HUMAN GENETICS 8: 259-266. 2000

Helisalmi S, Valve R, Karvonen MK, Hiltunen M, Pirskanen M, Mannermaa A, Koulu M, Pesonen U, Uusitupa M, Soininen H. 2000. 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. NEUROSCIENCE LETTERS 287: 25-28. 2000

Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I, Ryynänen M, Soininen H. 2000. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer¿s disease?. NEUROSCIENCE LETTERS 278: 65-68. 2000

Eloranta M-L, Heiskanen J, Hiltunen M, Helisalmi S, Mannermaa A, Heinonen S. 2000. Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY 35: 966-968. 2000

Alafuzoff I, Helisalmi S, Mannermaa A, Soininen H. 2000. Severity of cardiovascular disease, apolipoprotein E genotype, and brain pathology in aging and dementia. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES 903: 244-251. 2000

Alafuzoff I, Helisalmi S, Mannermaa A, Riekkinen P Sr, Soininen H. 1999. Beta-amyloid load is not influenced by the severity of cardiovascular disease in aged and demented patients STROKE 30: 613-618. 1999

Helisalmi S, Hiltunen M, Valonen P, Mannermaa A, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 1999. Promoter polymorphism (-491A/T) in the APOE gene of Finnish Alzheimer¿s disease patients and control individuals. JOURNAL OF NEUROLOGY 246: 821-824. 1999

Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Helisalmi S, Ryynänen M, Riekkinen P Sr, Soininen H. 1999. Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer`s disease patients. EUROPEAN JOURNAL OF HUMAN GENETICS 7: 652-658. 1999

Ryynänen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Kirkinen P. 1999. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies EUROPEAN JOURNAL OF HUMAN GENETICS 7: 212-216. 1999

Ryynänen M, Heinonen S, Makkonen M, Mannermaa A, Kirkinen P. 1998. Fragiili X-oireyhtymän mutaatioiden seulonta alkuraskauden aikana - tulokset ja äitien mielipiteet geenitestistä. DUODECIM 114: 2323-2329. 1998

Lehtovirta M, Kuikka J, Helisalmi S, Hartikainen P, Mannermaa A, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Longitudinal SPECT study in Alzheimer`s disease: relation to apolipoprotein E polymorphism. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 64: 742-746. 1998

Hiltunen M, Mannermaa A, Helisalmi S, Koivisto A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer¿s disease patients NEUROSCIENCE LETTERS 250: 69-71. 1998

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. No association between alfa1-antichymotrypsin polymorphism, apolipoprotein E and patients with late-onset Alzheimer`s disease NEUROSCIENCE LETTERS 231: 56-58. 1997

Jäkälä P, Hänninen T, Ryynänen M, Laakso M, Partanen K, Mannermaa A, Soininen H. 1997. Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. JOURNAL OF CLINICAL INVESTIGATION 100 2: 331-338. 1997

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. Lack of association between presenilin-1 polymorphism, Alzheimer's disease and apolipoprotein E ALZHEIMER'S RESEARCH 3: 159-161. 1997

Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Hartikainen P, Hänninen T, Ryynänen M, Riekkinen PJ Sr. 1996. Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: relation to apolipoprotein E polymorphism. NEUROLOGY 46: 413-419. 1996

Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S. 1996. Deletion in the FMR1 gene in a fragile-x male AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 64: 293-295. 1996

Lehtovirta M, Soininen H, Laakso MP, Partanen K, Helisalmi S, Mannermaa A, Ryynänen M, Kuikka J, Hartikainen P, Riekkinen PJ Sr. 1996. SPECT and MRI analysis in Alzheimer's disease: relation to apolipoprotein E epsilon4 allele. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 60: 644-649. 1996

Lehtovirta M, Partanen J, Könönen M, Soininen H, Helisalmi S, Mannermaa A, Ryynänen M, Hartikainen P, Riekkinen P Sr. 1996. Spectral analysis of EEG in Alzheimer's disease: relation to apolipoprotein E polymorphism NEUROBIOLOGY OF AGING 17 4: 523-526. 1996

Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's disease. NEUROSCIENCE LETTERS 205: 68-70. 1996

Helisalmi S, Linnaranta K, Lehtovirta M, Mannermaa A, Heinonen O, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Apolipoprotein E polymorphism in patients with different neurodegenerative disorders NEUROSCIENCE LETTERS 205: 61-64. 1996

Heinonen O, Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Sorvari H, Kosunen O, Paljärvi L, Ryynänen M, Riekkinen PJ Sr. 1995. Alzheimer pathology of patients carrying apolipoprotein E epsilon4 allele. NEUROBIOLOGY OF AGING 16 4: 505-513. 1995

Kosunen O, Talasniemi S, Lehtovirta M, Heinonen O, Helisalmi S, Mannermaa A, Paljärvi L, Ryynänen M, Riekkinen PJ Sr, Soininen H. 1995. Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients. STROKE 26 5: 743-748. 1995

Lehtovirta M, Helisalmi S, Mannermaa A, Soininen H, Koivisto K, Ryynänen M, Riekkinen P Sr. 1995. Apolipoprotein E polymorphism and Alzheimer's disease in Eastern Finland. NEUROSCIENCE LETTERS 185: 13-15. 1995

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. Volumes of hippocampus, amygdala and frontal lobe in Alzheimer patients with different apolipoprotein E genotypes. NEUROSCIENCE 67 1: 65-72. 1995

Ryynänen M, Kirkinen P, Mannermaa A, Saarikoski S. 1995. Carrier diagnosis of the fragile X syndrome-A challenge in antenatal clinics AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 172 4: 1236-1239. 1995

Soininen H, Kosunen O, Helisalmi S, Mannermaa A, Paljärvi L, Talasniemi S, Ryynänen M, Riekkinen P Sr. 1995. A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein e4 allele. NEUROSCIENCE LETTERS 187: 79-82. 1995

Soininen H, Partanen K, Pitkänen A, Hallikainen M, Hänninen T, Helisalmi S, Mannermaa A, Ryynänen M, Koivisto K, Riekkinen P Sr. 1995. Decreased hippocampal volume asymmetry on MRIs in nondemented elderly subjects carrying the apolipoprotein E epsilon 4 allele. NEUROLOGY 45: 391-392. 1995

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