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• W2911180249 abstract "Inherited loss-of-function mutations in the tumor suppressor BRCA2 gene are associated with a high risk of ovarian cancer in the Chinese population. The current case report discusses a novel heterozygous insertion in BRCA2 gene, c.3195_3196insA, in a 54-year-old Chinese female with hereditary ovarian cancer. This frameshift mutation generates a premature stop codon at amino acid 1,076, which leads to a truncated BRCA2 protein instead of a wild-type BRCA2 protein with 3,418 amino acids. According to the Breast Cancer Information Core database, this mutation has not been previously reported. However, germline mutations of BRCA2 are a more prevalent cause of ovarian cancer in Chinese females compared with females in Western populations. The present study expands the mutational spectra of BRCA2 that is associated with ovarian cancer." @default.
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• W2911180249 date "2019-01-21" @default.
• W2911180249 modified "2023-10-16" @default.
• W2911180249 title "Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report" @default.
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• W2911180249 doi "https://doi.org/10.3892/ol.2019.9950" @default.
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