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

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GEMO Study Collaborators , EMBRACE Collaborators , kConFab Investigators , HEBON Investigators , ABCTB Investigators , Coignard , J , Lush , M , Beesley , J , Blomqvist , C , Kiiski , J I & Nevanlinna , H 2021 , ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ' , Nature Communications , vol. 12 , no. 1 , 1078 . https://doi.org/10.1038/s41467-020-20496-3

Title: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Author: GEMO Study Collaborators; EMBRACE Collaborators; kConFab Investigators; HEBON Investigators; ABCTB Investigators; Coignard, Juliette; Lush, Michael; Beesley, Jonathan; Blomqvist, Carl; Kiiski, Johanna I.; Nevanlinna, Heli
Contributor: University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, INDIVIDRUG - Individualized Drug Therapy
University of Helsinki, Department of Obstetrics and Gynecology
Date: 2021-02-17
Language: eng
Number of pages: 22
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/329123
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 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 BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P
Subject: 3111 Biomedicine
3122 Cancers
3123 Gynaecology and paediatrics
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