publication . Other literature type . Article . 2017 . Embargo end date: 23 May 2017

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Shimelis, Hermela; Mesman, Romy LS; Von, Nicolai Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calléja, Fabienne MGR; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; ...
en
  • Published: 23 May 2017
  • Publisher: Apollo - University of Cambridge Repository
Abstract
Breast cancer risks conferred by many germline missense variants in the $\textit{BRCA1}$ and $\textit{BRCA2}$ genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; $\textit{P}$ = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29;...
Subjects
free text keywords: for kConFab/AOCS Investigators, for NBCS Collaborators
Powered by OpenAIRE Open Research Graph
Any information missing or wrong?Report an Issue
publication . Other literature type . Article . 2017 . Embargo end date: 23 May 2017

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Shimelis, Hermela; Mesman, Romy LS; Von, Nicolai Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calléja, Fabienne MGR; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; ...