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A systematic review of the international prevalence of BRCA mutation in breast cancer

Authors Armstrong N, Ryder S, Forbes C, Ross J, Quek RGW

Received 27 February 2019

Accepted for publication 23 May 2019

Published 11 July 2019 Volume 2019:11 Pages 543—561


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Henrik Toft Sørensen

Nigel Armstrong,1 Steve Ryder,1 Carol Forbes,2 Janine Ross,3 Ruben GW Quek4

1Health Economics, Kleijnen Systematic Reviews Ltd., York YO19 6FD, UK; 2Systematic Reviews, Kleijnen Systematic Reviews Ltd., York YO19 6FD, UK; 3Information, Kleijnen Systematic Reviews Ltd., York YO19 6FD, UK; 4Health Economics & Outcomes Research, Pfizer Inc., San Francisco, CA 94105, USA

Abstract: A systematic review was conducted, summarizing international BRCA 1 or 2 (BRCA1/2) mutation prevalence in breast cancer. Databases (eg, Medline and Embase; N=7) and conferences were searched (January 2012 to December 2017). From 17,872 records, 70 studies were included. In 58 large (N>100) studies, BRCA1/2 mutation prevalence varied widely from 1.8% (Spain) in sporadic breast cancer to 36.9% (United States) in estrogen receptor/progesterone receptor low+ (1–9% on immunohistochemistry/human epidermal growth factor receptor 2–negative [HER2-]) breast cancer. In 2 large studies unselected for family history, ethnicity, sex, or age and no/unclear selection by breast cancer stage or hormone receptor (HR) status, germline BRCA (gBRCA) mutation prevalence was 2.9% (Italy) to 3.0% (South Korea). In the 4 large unselected triple-negative breast cancer studies, gBRCA mutation prevalence varied from 9.3% (Australia) to 15.4% (United States). gBRCA mutation prevalence in 1 large unselected HR positive/HER2- early breast cancer study was 5% (United States). In 2 large unselected metastatic breast cancer studies, gBRCA mutation prevalence was 2.7% (France) and 4.3% (Germany). Locally advanced breast cancer studies were small and not in unselected populations. Poor reporting of gBRCA status and basis of selection implies a need for further large well-reported BRCA mutation prevalence studies in breast cancer.

Keywords: BRCA1, BRCA2, prevalence, systematic review, chemotherapy

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