Universidad de Granada Digibug
 

Repositorio Institucional de la Universidad de Granada >
1.-Investigación >
Departamentos, Grupos de Investigación e Institutos >
Departamento de Radiología y Medicina Física >
DRMF - Artículos >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10481/44831

Title: Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Authors: Couch, Fergus J.
Sánchez-Pérez, María J.
Issue Date: 2016
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Sponsorship: B.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692); the National Institutes of Health Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), R01 grants (CA128978, CA176785, CA192393), and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative); the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Breast Cancer Res. Foundation, and the Ovarian Cancer Research Fund. CIMBA genotyping was supported by National Institutes of Health grant (CA128978); the Department of Defence (W81XWH-10-1-0341); and the Breast Cancer Res. Foundation. CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A11174 and C1287/A10118. This study made use of data generated by the Wellcome Trust Case Control consortium. Functional studies were supported by the Florida Breast Cancer Foundation. A full description of funding and acknowledgments is provided in Supplementary Note 1.
Publisher: Nature Publishing Group
Keywords: Breast cancer
Genome
Loci
Gene expression
URI: http://hdl.handle.net/10481/44831
ISSN: 2041-1723
Rights : Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License
Citation: Couch, F.J.; et al. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications, 7: 11375 (2016). [http://hdl.handle.net/10481/44831]
Appears in Collections:DRMF - Artículos

Files in This Item:

File Description SizeFormat
Couch_BreastCancer.pdf971.81 kBAdobe PDFView/Open
Recommend this item

This item is licensed under a Creative Commons License
Creative Commons

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

Valid XHTML 1.0! OpenAire compliant DSpace Software Copyright © 2002-2007 MIT and Hewlett-Packard - Feedback

© Universidad de Granada