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 organization: | HUS Comprehensive Cancer Center Department of Oncology Clinicum INDIVIDRUG - Individualized Drug Therapy HUS Gynecology and Obstetrics Department of Obstetrics and Gynecology |
Date: | 2021-02-17 |
Language: | eng |
Number of pages: | 22 |
Belongs to series: | Nature Communications |
ISSN: | 2041-1723 |
DOI: | https://doi.org/10.1038/s41467-020-20496-3 |
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 |
Peer reviewed: | Yes |
Rights: | cc_by |
Usage restriction: | openAccess |
Self-archived version: | publishedVersion |
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