NGS Analysis of the BRCA1/BRCA2 Variants in the Ovarian Cancer Patients at High versus Low Risk of Mutation
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Abstract
Objectives: The pathogenic variant in breast cancer susceptibility gene 1/2 (BRCA1/2) is related to the risk of ovarian cancer, which is one of the most common cancers among women worldwide. Here, we aimed to understand the variants of these genes among Vietnamese population to improve early detection and diagnosis as well as treatment decisions.
Material and Method: BRCA1/2 genes of tumor tissue from 33 ovarian cancer patients in high-risk and low-risk of mutation groups were sequenced by next-generation sequencing (NGS) using the BRCAaccuTestTM PLUS kit.
Results: Among a total of 33 distinguished variants detected, we found 5 pathogenic and likely pathogenic (P/LP) variants, including c.1801_1808delCACAATTC, c.1016delA, c.1673_1674delAA, c.928C>T in BRCA1 and c.2865delC in BRCA2 with a frequency of 3.03%, except for c.1801_1808delCACAATTC (6.06%). All variants led to defects in coding protein. c.1801_1808delCACAATTC variant in BRCA1 and c.2865delC in BRCA2 was firstly introduced. The prevalence of BRCA1/2 P/LP variants in the high-risk group was 22.73%, while this figure for the low-risk group was 9.09%. No statistically significant difference in other clinical features was found between P/LP variant-carried and non-P/LP variant-carried patients apart from age and comorbidities.
Conclusions: This study provided precious data for BRCA1/2 variant mapping among Vietnamese ovarian cancer patients.
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