<p>A systematic review of the international prevalence of <em>BRCA </em>mutation in breast cancer</p>

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 (g BRCA ) mutation prevalence was 2.9% (Italy) to 3.0% (South Korea). In the 4 large unselected triple-negative breast cancer studies, g BRCA mutation prevalence varied from 9.3% (Australia) to 15.4% (United States). g BRCA 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, g BRCA 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 g BRCA status and basis of selection implies a need for further large well-reported BRCA mutation prevalence studies in breast cancer.

Differentially expressed genes and key molecules of BRCA1/2-mutant breast cancer: evidence from bioinformatics analyses

“…BRCA1/2 are currently proven to be closely related to hereditary breast cancer and some sporadic breast cancer. But there is a paucity of data pertaining to ethnical high-risk cases with BRCA1/2 mutations and further large BRCA mutation prevalence studies (Bernstein-Molho et al, 2019;Armstrong et al, 2019). Although some genes have been identified and the pathogenic mechanism of BRCA1/2 genes for breast cancer has partly explained, the closely related genes to BRCA1/2 in breast cancer (BC) remain to be fully elucidated.…”

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

“…The considerable heterogeneity in all CBC risk calculators, especially in the CBCrisk and the Manchester formula, reflects the different CBC incidences in every study [13]. Another potential source of heterogeneity is the carrier frequency of germline mutations associated with CBC that may vary among studies, especially in the CBC calculators not including information of BRCA1/2 mutation as CBCrisk and the PredictCBC-1B [22]. In addition, heterogeneity may be due to the different proportions of the use of (neo)adjuvant systemic therapies explained by the different distribution of tumor subtypes among studies [4].…”

An In Vitro Evaluation of the Molecular Mechanisms of Action of Medical Plants from the Lamiaceae Family as Effective Sources of Active Compounds against Human Cancer Cell Lines

“…Genetic predisposition also plays an important role, as approximately 7% of breast cancer cases are hereditary [ 29 ]. In turn, mutations in the BRCA1 and BRCA2 genes cause as much as 80% of genetic breast cancer [ 30 , 31 ]. BRCAs proteins regulate genes linked to DNA repair, the cell cycle, and apoptosis [ 32 ].…”