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Couch, Fergus J.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A.; Nord, Silje; Lilyquist, Janna; Olswold, Curtis; Hallberg, Emily; Agata, Simona; Ahsan, Habibul; Aittomäki, Kristiina; Ambrosone, Christine; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Blank, Stephanie V.; [...]

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

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  • Media type: E-Article
  • Title: Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
  • Contributor: Couch, Fergus J.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A.; Nord, Silje; Lilyquist, Janna; Olswold, Curtis; Hallberg, Emily; Agata, Simona; Ahsan, Habibul; Aittomäki, Kristiina; Ambrosone, Christine; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Blank, Stephanie V.; [...]
  • imprint: Springer Science and Business Media LLC, 2016
  • Published in: Nature Communications
  • Language: English
  • DOI: 10.1038/ncomms11375
  • ISSN: 2041-1723
  • Keywords: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (<jats:italic>P</jats:italic>&lt;5 × 10<jats:sup>−8</jats:sup>) with oestrogen receptor (ER)-negative breast cancer and <jats:italic>BRCA1</jats:italic>-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 <jats:italic>BRCA1</jats:italic> mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near <jats:italic>KLF5</jats:italic>, a 2p23.2 locus near <jats:italic>WDR43</jats:italic> and a 2q33 locus near <jats:italic>PPIL3</jats:italic> 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 (<jats:italic>P</jats:italic>&lt;0.05) with ER-negative disease. Using functional and eQTL studies we implicate <jats:italic>TRMT61B</jats:italic> and <jats:italic>WDR43</jats:italic> at 2p23.2 and <jats:italic>PPIL3</jats:italic> 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 <jats:italic>BRCA1</jats:italic> breast cancer risk prediction.</jats:p>
  • Access State: Open Access