Dataset Information

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

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.

SUBMITTER: Feng Z

PROVIDER: S-EPMC10464413 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Publications

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

Feng Zhewen Z Yang Xiaobao X Tian Mingwei M Zeng Na N Bai Zhigang Z Deng Wei W Zhao Yanyan Y Guo Jianru J Yang Yingchi Y Zhang Zhongtao Z Yang Yun Y

BMC cancer 20230829 1

<h4>Background</h4>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.<h4>Methods</h4>In this systematic r ...[more]

PMID: 37644384

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Project description:To perform a systematic review and meta-analysis of published studies assessing the sensitivity of both computed tomographic (CT) colonography and optical colonoscopy (OC) for colorectal cancer detection.Analysis followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations. The primary data source was the results of a detailed PubMed search from 1994 to 2009. Diagnostic studies evaluating CT colonography detection of colorectal cancer were assessed by using predefined inclusion and exclusion criteria, in particular requiring both OC and histologic confirmation of disease. Studies that also included a mechanism to assess true-positive versus false-negative diagnoses at OC (eg, segmental unblinding) were used to calculate OC sensitivity. Assessment and data extraction were performed independently by two authors. Potential bias was ascertained by using Quality Assessment of Diagnostic Accuracy Studies guidelines. Specific CT colonography techniques were cataloged. Forest plots of per-patient sensitivity were produced on the basis of random-effect models. Potential bias across primary studies was assessed by using the I(2) statistic. Original study authors were contacted for data clarification when necessary.Forty-nine studies provided data on 11,151 patients with a cumulative colorectal cancer prevalence of 3.6% (414 cancers). The sensitivity of CT colonography for colorectal cancer was 96.1% (398 of 414; 95% confidence interval [CI]: 93.8%, 97.7%). No heterogeneity (I(2) = 0%) was detected. No cancers were missed at CT colonography when both cathartic and tagging agents were combined in the bowel preparation. The sensitivity of OC for colorectal cancer, derived from a subset of 25 studies including 9223 patients, was 94.7% (178 of 188; 95% CI: 90.4%, 97.2%). A moderate degree of heterogeneity (I(2) = 50%) was present.CT colonography is highly sensitive for colorectal cancer, especially when both cathartic and tagging agents are combined in the bowel preparation. Given the relatively low prevalence of colorectal cancer, primary CT colonography may be more suitable than OC for initial investigation of suspected colorectal cancer, assuming reasonable specificity.http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.11101887/-/DC1.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

Similar Datasets

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