RAD51B in Familial Breast Cancer

Beitrag in einer Fachzeitschrift


Details zur Publikation

Autorinnen und Autoren: Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Doerk T, Bogdanova NV, Figueroa J, Pharoah PDP, Schmidt MK, Dunning AM, Garcia-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching P, Beckmann M, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guenel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, Gonzalez-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Bruening T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collee M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomaki K, Nevanlinna H
Zeitschrift: PLoS ONE
Jahr der Veröffentlichung: 2016
Band: 11
Heftnummer: 5
ISSN: 1932-6203


Abstract

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.


FAU-Autorinnen und Autoren / FAU-Herausgeberinnen und Herausgeber

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Fasching, Peter PD Dr.
Professur für Translationale Frauenheilkunde und Geburtshilfe


Einrichtungen weiterer Autorinnen und Autoren

Antoni van Leeuwenhoek
Beckman Research Institute of City of Hope (BRI)
Copenhagen University Hospital
Deutsches Krebsforschungszentrum (DKFZ)
Erasmus University Medical Center
Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam
Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB)
Fondazione IRCCS: Istituto Nazionale dei Tumori
Helsingin yliopisto / University of Helsinki
Helsinki University Central Hospital (HUCH) / Helsingin seudun yliopistollinen keskussairaala (HYKS)
IFOM - FIRC Institute of Molecular Oncology
Karolinska Institute
King’s College London
Kuopio University Hospital / Pohjois-Savon sairaanhoitopiiri
Leiden University
London School of Hygiene and Tropical Medicine
Mayo Clinic
Medizinische Hochschule Hannover (MHH) / Hannover Medical School
Mount Sinai Hospital (MSH)
National Cancer Institute (NCI)
National Centre for Scientific Research (NCSR) "Demokritos"
National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM)
Oslo University Hospital / Oslo Universitetssykehus
Oulun Yliopisto / University of Oulo
Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU)
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Ruhr-Universität Bochum (RUB)
Ruprecht-Karls-Universität Heidelberg
Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO)
Technische Universität München (TUM)
The Institute of Cancer Research (ICR)
The University of Melbourne
Universitätsklinikum Köln
Université Laval (UL)
University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven
University of California Irvine
University of Cambridge
University of Oxford
University of Sheffield
University of Southern California (USC)
University of Tampere (UTA) / Tampereen yliopisto (Tay)
Vanderbilt University


Zitierweisen

APA:
Pelttari, L.M., Khan, S., Vuorela, M., Kiiski, J.I., Vilske, S., Nevanlinna, V.,... Nevanlinna, H. (2016). RAD51B in Familial Breast Cancer. PLoS ONE, 11(5). https://dx.doi.org/10.1371/journal.pone.0153788

MLA:
Pelttari, Liisa M., et al. "RAD51B in Familial Breast Cancer." PLoS ONE 11.5 (2016).

BibTeX: 

Zuletzt aktualisiert 2019-21-07 um 08:06