BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer

Abstract

The BRCA2 N372H is the only common polymorphism that leads to the amino acid change based on the reports up to date. Previous studies explored the relationship between the single nucleotide polymorphism and ovarian cancer risk, but the results were inconsistent or inconclusive.To investigate the association between N372H in BRCA2 gene and ovarian cancer susceptibility, a systematic literature search was performed for related publications in the databases of PubMed, Gene, and Google Scholar.Total 2344 cases and 9672 controls in eligible studies were included in this meta-analysis. χ2 -based Q test and an I2 index were used to identify the heterogeneous records. Potential publication biases were assessed by Begg and Egger tests.In the overall analysis, the results showed a significant association between BRCA2 codon 372 polymorphism and increased risk of ovarian cancer (HH versus NN: odds ratio (OR) = 1.22, 95% confidence interval (CI) 1.01–1.48, P = 0.037). In the Australia subgroup analysis, significant association was also detected (HH versus NN: OR = 1.40, 95% CI 1.04–1.87, P = 0.026). The subgroup analysis for serous cancer subgroup showed that the significant association could be detected under recessive model (OR = 1.38, 95% CI, 1.01–1.89, P = 0.04) and under homozygote comparison (OR = 1.46, 95% CI, 1.06–2.01, P = 0.022).Our meta-analysis suggests that the N372H polymorphism is associated with susceptibility of ovarian cancer. The allele H might increase the risk of ovarian cancer, especially, for ovarian cancers of the serous subtype.