OpenAIRE is about to release its new face with lots of new content and services.
During September, you may notice downtime in services, while some functionalities (e.g. user registration, login, validation, claiming) will be temporarily disabled.
We apologize for the inconvenience, please stay tuned!
For further information please contact helpdesk[at]

fbtwitterlinkedinvimeoflicker grey 14rssslideshare1
Osorio, Ana; Milne, Roger L; Kuchenbaecker, Karoline; Vaclová, Tereza; Pita, Guillermo; Alonso, Rosario; Peterlongo, Paolo; Blanco, Ignacio; de la Hoya, Miguel; Duran, Mercedes; Díez, Orland; Ramón y Cajal, Teresa; Konstantopoulou, Irene; Martínez-Bouzas, Cristina; Conejero, Raquel Andrés; Soucy, Penny; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Arver, Brita; Rantala, Johanna; Loman, Niklas; Ehrencrona, Hans; Olopade, Olufunmilayo I; Beattie, Mary S; Domchek, Susan M; Nathanson, Katherine; Rebbeck, Timothy R; Arun, Banu K; Karlan, Beth Y ... view all 197 authors View less authors (2014)
Publisher: Public Library of Science
Languages: English
Types: Article
Subjects: DAMAGE, Research Article, CONSORTIUM, Polymorphism, Single Nucleotide/genetics*, BRCA1 Protein/genetics*, BREAST-CANCER, GENETIC MODIFIERS, INVESTIGATORS, QH426-470, Genetics, Cancer Genetics, OVARIAN-CANCER, DNA Repair/genetics*, Female, SINGLE-NUCLEOTIDE POLYMORPHISMS, COMMON VARIANTS, Biology and Life Sciences, NEIL2, Aged, Middle Aged, Brjóstakrabbamein, Genotype, Medical Genetics, Medicinsk genetik, OGG1, DNA Glycosylases/genetics*, Adolescent, Ovarian Neoplasms/genetics*, Risk, Breast Neoplasms/genetics*, Genetic Predisposition to Disease, Medicine and Health Sciences, Arfgengi, Adult, Aged, 80 and over, Humans, BRCA2 Protein/genetics*

Classified by OpenAIRE into

mesheuropmc: skin and connective tissue diseases, endocrine system diseases
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied. Mutua Madrilena Foundation (FMMA) Spanish Association against Cancer AECC08 RTICC 06/0020/1060 Cancer Research UK C1287/A10118 C1287/A 10710 C12292/A11174 C5047/A8384 C5047/A15007 C5047/A10692 C1287/A11990 C5047/A8385 National Institutes of Health CA128978 Post-Cancer GWAS initiative 1 U19 CA 148537 Department of Defence W81XWH-10-1-0341 Canadian Institutes of Health Research (CIHR) Komen Foundation for the Cure Breast Cancer Research Foundation Ovarian Cancer Research Fund Swedish Cancer Society Cancer Association of South Africa (CANSA) NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer CA125183 R01 CA142996 1U01CA161032 CA116201 Ralph and Marion Falk Medical Research Trust Entertainment Industry Fund National Women's Cancer Research Alliance Basser Research Center American Cancer Society Early Detection Professorship SIOP-06-258-01-COUN National Cancer Institute UM1 CA164920 CA 27469 CA 101165 CA 37517 Lithuania (BFBOCC-LT): Research Council of Lithuania LIG-07/2012 Hereditary Cancer Association (Paveldimo vezio asociacija) LSC 10.0010.08 ESF 2009/0220/1DP/ Liepaja's municipal council Morris and Horowitz Families Professorship NEYE Foundation City of Hope Clinical Cancer Genetics Community Research Network, National Cancer Institute RC4A153828 Office of the Director, National Institutes of Health Italian Association for Cancer Research (AIRC) FiorGen Foundation for Pharmacogenomics Associazione CAOS Varese European Union (European Social Fund - ESF) Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research & Technology: ARISTEIA NIHR University of Kansas Cancer Center P30 CA168524 Kansas Bioscience Authority Eminent Scholar Program Chancellors Distinguished Chair in Biomedical Sciences Professorship German Cancer Aid 109076 Center for Molecular Medicine Cologne (CMMC) Ligue National Contre le Cancer Association "Le cancer du sein, parlons-en!" Award Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program Intramural Research Program, NCI RTICC (ISCIII), Spanish Ministry of Economy and Competitivity RD06/0020/0021 Helsinki University Central Hospital Research Fund Academy of Finland 132473 Finnish Cancer Society Sigrid Juselius Foundation Dutch Cancer Society NKI1998-1854 NKI2004-3088 NKI2007-3756 Netherlands Organization of Scientific Research NWO 91109024 Pink Ribbon grant 110005 BBMRI NWO 184.021.007/CP46 Hungarian Research Grant KTIA-OTKA CK-80745 Polish Foundation of Science Nordic Cancer Union, Icelandic Association "Walking for Breast Cancer Research" Landspitali University Hospital Research Fund Canadian Institutes of Health Research Canadian Breast Cancer Research Alliance-grant 019511 Ministry of Economic Development, Innovation and Export Trade PSR-SIIRI-701 Ministero dell'Istruzione, dell'Universitae della Ricerca and Ministero della Salute National Breast Cancer Foundation National Health and Medical Research Council (NHMRC) Queensland Cancer Fund Cancer Councils of New South Wales, Victoria NIH CA128978 U.S. Department of Defence Ovarian Cancer Idea award W81XWH-10-1-0341 Sharon Levine Corzine Fund Niehaus Clinical Cancer Genetics Initiative Andrew Sabin Family Foundation Lymphoma Foundation US National Cancer Institute, NIH Westat, Inc, Rockville, MD NO2-CP-11019-50 N02-CP-65504 Clalit Health Services in Israel Israel Cancer Association Breast Cancer Research Foundation (BCRF), NY Ohio State University Comprehensive Cancer Center FISPI12/00070 5U01CA113916 R01CA140323 info:eu-repo/grantAgreement/EC/FP7/223175 info:eu-repo/grantAgreement/EC/FP7/223175

Share - Bookmark

Funded by projects

Cite this article

Cookies make it easier for us to provide you with our services. With the usage of our services you permit us to use cookies.
More information Ok