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Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O’Mara, Tracy A.; Dennis, Joe; Tyrer, Jonathan P.; Barnes, Daniel R.; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K.; Adank, Muriel A.; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Augustinsson, Annelie; Azzollini, Jacopo; Barrowdale, Daniel; Baynes, Caroline; [...]

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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  • Medientyp: E-Artikel
  • Titel: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
  • Beteiligte: Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O’Mara, Tracy A.; Dennis, Joe; Tyrer, Jonathan P.; Barnes, Daniel R.; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K.; Adank, Muriel A.; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Augustinsson, Annelie; Azzollini, Jacopo; Barrowdale, Daniel; Baynes, Caroline; [...]
  • Erschienen: Springer Science and Business Media LLC, 2021
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-020-20496-3
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Breast cancer (BC) risk for <jats:italic>BRCA1</jats:italic> and <jats:italic>BRCA2</jats:italic> mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with <jats:italic>BRCA1</jats:italic> or <jats:italic>BRCA2</jats:italic> mutations. We identify robust novel associations for 2 variants with BC for <jats:italic>BRCA1</jats:italic> and 3 for <jats:italic>BRCA2</jats:italic> mutation carriers, <jats:italic>P</jats:italic> &lt; 10<jats:sup>−8</jats:sup>, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where <jats:italic>MADD</jats:italic>, <jats:italic>SP11</jats:italic> and <jats:italic>EIF1</jats:italic>, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for <jats:italic>BRCA1</jats:italic> and <jats:italic>BRCA2</jats:italic> mutation carriers.</jats:p>
  • Zugangsstatus: Freier Zugang