INTERNATIONAL CONGRESS OF
CancerGenetics
BRCA 1/2 mutation and incidence of skin cancers: A Systematic Review and Meta-Analysis
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Elaheh Foroughi,1,*
1. Isfahan Unoversity of Medical Sciences
- Introduction: Individuals with mutations in the BRCA1 and BRCA2 genes have a significantly increased lifetime risk of developing breast and ovarian cancer. However, the connection between BRCA1 and BRCA2 mutations and the risk of skin cancer remains unclear. We conducted a systematic review and meta-analysis to assess the relationship between skin cancers and BRCA1/2 mutations.
- Methods: The following four databases—PubMed, Scopus, Embase, and Web of Science—were searched until October 4th. After two screening steps based on eligibility criteria and assessing the quality of studies using the JBI checklist, a total of 30 studies were included. The articles were reviewed to determine whether there is a correlation between these mutations and skin cancer.
- Results: Thirty studies were included, comprising 9 investigations of skin cancer in 19,679 BRCA1/2 mutation carriers and 21 studies on BRCA1/2 mutations in 5,769 skin cancer patients. In both groups of individuals with BRCA1 and BRCA2 mutations, the pooled estimation of skin cancer prevalence was 6%. The pooled prevalence of BRCA1 and BRCA2 mutations in skin cancer patients was 2% and 5%, respectively. The overall prevalence of combined BRCA1 and BRCA2 mutations was 7% in individuals with skin cancer. In the subgroup analysis of BRCA1 and BRCA2 mutations based on three types of skin cancer -melanoma, MCC, and BCC- the melanoma and BCC demonstrated significant results with pooled estimation of BRCA mutations of 7% and 11%, respectively.
- Conclusion: Our meta-analysis revealed that BRCA2 mutations were more prevalent than BRCA1 mutations in skin cancers. Analyzing BRCA mutations based on skin cancer types indicated higher BRCA mutations rate in BCC compared to other types. These findings may provide a guide to screening and preventive strategies in skin cancer patients.
- Keywords: skin cancer, BRCA1 mutation, BRCA2 mutation, Breast cancer
