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Meta-Analysis
. 2023 Aug 29;23(1):807.
doi: 10.1186/s12885-023-11328-w.

BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis

Zhewen Feng  1 , Xiaobao Yang  1 , Mingwei Tian  1 , Na Zeng  2 , Zhigang Bai  1 , Wei Deng  1 , Yanyan Zhao  3 , Jianru Guo  3 , Yingchi Yang  1 , Zhongtao Zhang  1 , Yun Yang  4
Affiliations
Meta-Analysis

BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis

Zhewen Feng et al. BMC Cancer. .

Abstract

Background: Breast cancer susceptibility gene (BRCA) mutation carriers are at an increased risk for breast, ovarian, prostate and pancreatic cancers. However, the role of BRCA is unclear in colorectal cancer; the results regarding the association between BRCA gene mutations and colorectal cancer risk are inconsistent and even controversial. This study aimed to investigate whether BRCA1 and BRCA2 gene mutations are associated with colorectal cancer risk.

Methods: In this systematic review, we searched PubMed/MEDLINE, Embase and Cochrane Library databases, adhering to PRISMA guidelines. Study quality was assessed using the Newcastle-Ottawa Scale (NOS). Unadjusted odds ratios (ORs) were used to estimate the probability of Breast Cancer Type 1 Susceptibility gene (BRCA1) and Breast Cancer Type 2 Susceptibility gene (BRCA2) mutations in colorectal cancer patients. The associations were evaluated using fixed effect models.

Results: Fourteen studies were included in the systematic review. Twelve studies, including seven case-control and five cohort studies, were included in the meta-analysis. A significant increase in the frequency of BRCA1 and BRCA2 mutations was observed in patients with colorectal cancer [OR = 1.34, 95% confidence interval (CI) = 1.02-1.76, P = 0.04]. In subgroup analysis, colorectal cancer patients had an increased odds of BRCA1 (OR = 1.48, 95% CI = 1.10-2.01, P = 0.01) and BRCA2 (OR = 1.56, 95% CI = 1.06-2.30, P = 0.02) mutations.

Conclusions: BRCA genes are one of the genes that may increase the risk of developing colorectal cancer. Thus, BRCA genes could be potential candidates that may be included in the colorectal cancer genetic testing panel.

Keywords: BRCA; BRCA1; BRCA2; Colorectal cancer; Genetic testing; Mutation.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) flow diagram
Fig. 2
Fig. 2
Forest plot of the association between overall BRCA mutation and colorectal cancer risk expressed as unadjusted odds ratio. 1.2.1 Forest plots of the associations of BRCA1 mutations with colorectal cancer risk. 1.2.2 Forest plots of the associations of BRCA2 mutations with colorectal cancer risk. 1.2.3 Forest plots of the associations of BRCA1/2 mutations with colorectal cancer risk
Fig. 3
Fig. 3
Forest plot of the relationship between BRCA mutations and colorectal cancer risk, expressed as unadjusted odds ratios, among non-Ashkenazic Jews
Fig. 4
Fig. 4
Funnel plot of standard error by effect estimate for overall meta-analysis of the association between BRCA mutation and colorectal cancer
Fig. 5
Fig. 5
Sensitivity analysis of meta-analysis of the association between BRCA gene mutations and colorectal cancer risk
See this image and copyright information in PMC

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