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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA.;Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA..
Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England..
Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England..
Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol Program, Tampa, FL 33612 USA..
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2016 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 7, 11375Article in journal (Refereed) PublishedText
Abstract [en]

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 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 similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

Place, publisher, year, edition, pages
2016. Vol. 7, 11375
National Category
Cancer and Oncology
URN: urn:nbn:se:uu:diva-297542DOI: 10.1038/ncomms11375ISI: 000374894400001PubMedID: 27117709OAI: diva2:942814
EU, FP7, Seventh Framework Programme, 223175NIH (National Institute of Health), CA116201NIH (National Institute of Health), CA128978NIH (National Institute of Health), CA176785NIH (National Institute of Health), CA192393
Available from: 2016-06-27 Created: 2016-06-23 Last updated: 2016-06-27Bibliographically approved

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