RAD51B in Familial Breast Cancer
| Autor: | kConFab, Jonine Figueroa, Elinor J. Sawyer, Manjeet K. Bolla, Carl Blomqvist, Jaana M. Hartikainen, Sara Margolin, Mitul Shah, Matthias W. Beckmann, Fredrick Schumacher, Vessela N. Kristensen, Graham G. Giles, Isabel dos-Santos-Silva, Kamila Czene, Douglas F. Easton, Qin Wang, Javier Benitez, Janet E. Olson, Georgia Chenevix-Trench, John L. Hopper, Alicia Beeghly-Fadiel, Hoda Anton-Culver, Paolo Radice, Aocs Investigators, Nick Orr, Jacques Simard, Mervi Grip, Salla Ranta, Fergus J. Couch, Marjanka K. Schmidt, Kristiina Aittomäki, Caroline Seynaeve, Ute Hamann, Johanna Schleutker, Hilde Janssen, Robert Luben, Anna González-Neira, Peter A. Fasching, Pascal Guénel, Anja Rudolph, Arto Mannermaa, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Alison M. Dunning, Margriet Collée, Robert Winqvist, Johanna Mattson, Mikko Vuorela, Sara Vilske, Anne Lise Børresen-Dale, Johanna I. Kiiski, Paolo Peterlongo, Anna Jakubowska, Paul D.P. Pharoah, Alfons Meindl, Anthony J. Swerdlow, Roger L. Milne, Hermann Brenner, Joe Dennis, Montserrat Garcia-Closas, Thomas Brüning, Christopher A. Haiman, Martine Dumont, Wei Zheng, Per Hall, Gord Glendon, Jingmei Li, Laurien Van Dyck, Susan L. Neuhausen, Simon S. Cross, Irene L. Andrulis, Peter Devilee, Annika Lindblom, Emily Hallberg, Diana Torres, Sofia Khan, Kyriaki Michailidou, Rita K. Schmutzler, Julian Peto, Harald Surowy, Børge G. Nordestgaard, Barbara Burwinkel, Natalia Bogdanova, Drakoulis Yannoukakos, Heli Nevanlinna, Jan Lubinski, Liisa M. Pelttari, Efraim H. Rosenberg, Hiltrud Brauch, Thilo Dörk, Angela Cox, Viivi Nevanlinna, Maartje J. Hooning, Volker Arndt, Anne Kallioniemi, Stig E. Bojesen, Jenny Chang-Claude, Hatef Darabi |
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| Přispěvatelé: | Obstetrics & Gynecology, Clinical Genetics, Gastroenterology & Hepatology, Medical Oncology, Brusgaard, Klaus, Department of Obstetrics and Gynecology, Clinicum, Department of Oncology, Medicum, Kristiina Aittomäki / Principal Investigator, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Thierry, B, Zeps, N, Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Luben, Robert [0000-0002-5088-6343], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Oncology Male Heredity XRCC2 Genotyping Techniques lcsh:Medicine Genome-wide association study 14Q24.1 RAD51L1 VARIANTS Geographical Locations 3123 Gynaecology and paediatrics Cancer screening Breast Tumors Medicine and Health Sciences CONFER SUSCEPTIBILITY Ethnicities lcsh:Science Finland Genetics RISK education.field_of_study Multidisciplinary GERMLINE MUTATIONS Genomics Middle Aged 3. Good health Ovarian Cancer Europe DNA-Binding Proteins Genetic Mapping Male breast cancer Female Cancer Screening Research Article medicine.medical_specialty Heterozygote General Science & Technology Population 3122 Cancers Mutation Missense Single-nucleotide polymorphism Variant Genotypes Breast Neoplasms Genome Complexity Polymorphism Single Nucleotide OVARIAN-CANCER 03 medical and health sciences Breast cancer SDG 3 - Good Health and Well-being Internal medicine Breast Cancer medicine Cancer Detection and Diagnosis Journal Article Humans Genetic Predisposition to Disease GENOME-WIDE ASSOCIATION education Evolutionary Biology Population Biology business.industry lcsh:R Cancers and Neoplasms Biology and Life Sciences Computational Biology Odds ratio medicine.disease ta3122 GENE Introns 030104 developmental biology Haplotypes FANCONI-ANEMIA People and Places lcsh:Q Population Groupings business Ovarian cancer Gynecological Tumors Population Genetics Finns |
| Zdroj: | Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Dörk, T, Bogdanova, N V, Figueroa, J, Pharoah, P D P, Schmidt, M K, Dunning, A M, García-Closas, M, Bolla, M K, Dennis, J, Michailidou, K, Wang, Q, Hopper, J L, Southey, M C, Rosenberg, E H, Fasching, P A, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Sawyer, E J, Tomlinson, I, Burwinkel, B, Surowy, H, Guénel, P, Truong, T, Bojesen, S E, Nordestgaard, B G, Benitez, J, González-Neira, A, Neuhausen, S L, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, R K, Brauch, H, Brüning, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, J M & kConFab/AOCS Investigators 2016, ' RAD51B in Familial Breast Cancer ', PLOS ONE, vol. 11, no. 5, e0153788 . https://doi.org/10.1371/journal.pone.0153788 PLoS One (print), 11(5):e0153788. Public Library of Science PLoS ONE Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Dörk, T, Bogdanova, N V, Figueroa, J, Pharoah, P D P, Schmidt, M K, Dunning, A M, García-Closas, M, Bolla, M K, Dennis, J, Michailidou, K, Wang, Q, Hopper, J L, Southey, M C, Rosenberg, E H, Fasching, P A, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Sawyer, E J, Tomlinson, I, Burwinkel, B, Surowy, H, Guénel, P, Truong, T, Bojesen, S E, Nordestgaard, B G, Benitez, J, González-Neira, A, Neuhausen, S L, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, R K, Brauch, H, Brüning, T, Lindblom, A, Margolin, S & Mannermaa, A & Hartikainen, J M 2016, ' RAD51B in Familial Breast Cancer ', PLoS ONE, vol. 11, no. 5, pp. e0153788 . https://doi.org/10.1371/journal.pone.0153788 PLoS ONE, 11(5) PLoS ONE, Vol 11, Iss 5, p e0153788 (2016) Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R & Orr, N 2016, ' AD51B in Familial Breast Cancer ', PLoS ONE, vol. 11, no. 5, e0153788 . https://doi.org/10.1371/journal.pone.0153788 |
| ISSN: | 1932-6203 |
| DOI: | 10.1371/journal.pone.0153788 |
| Popis: | Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk. ispartof: PLoS One vol:11 issue:5 ispartof: location:United States status: published |
| Databáze: | OpenAIRE |
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