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Review
. 2019 Jul 11:11:543-561.
doi: 10.2147/CLEP.S206949. eCollection 2019.

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

Nigel Armstrong  1 , Steve Ryder  1 , Carol Forbes  2 , Janine Ross  3 , Ruben Gw Quek  4
Affiliations
Review

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

Nigel Armstrong et al. Clin Epidemiol. .

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; chemotherapy; prevalence; systematic review.

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Conflict of interest statement

NA, SR, CF, and JR are employees of Kleijnen Systematic Reviews Ltd., who were paid consultants to Pfizer in connection with the development of this manuscript. RGWQ is an employee of and owns stocks from Pfizer Inc. The authors report no other conflicts of interest in this work.

Figures

Figure 1
Figure 1
PRISMA flow chart detailing literature searches and inclusion screening.
Figure 2
Figure 2
Summary of JBI risk of bias assessment for prevalence studies. Abbreviations: JBI, Joanna Briggs Institute.
Figure 3
Figure 3
Prevalence (%) in largest (N>500) studies. Notes: Horizontal axis has 3 levels: bottom – selection (family history/sex/ethnicity); middle – hormone receptor status (red = TNBC, dark green = mixed, light green = NR/unclear); top – country. BC stage not shown because NR/unclear for all but 2 studies (1 mixed and 1 invasive); *Bar for Son, 2012 is striped in order to distinguish it from bar for Kim, 2012: it is of mixed hormone receptor status. Pale blue = germline reported; red text = deleterious/pathogenic/clinically significant reported. High risk: based on fulfilment of at least 1 of a set of criteria, including family history, early onset, or male BC, which vary by study (See Table 1). Mixed: implies that the study included both those individuals with and without a family history of breast cancer, but the study did not report that probands were unselected. Abbreviations: BC, breast cancer; NR, not reported; TNBC, triple-negative breast cancer.
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