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- Title
Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
- Authors
Cui, Yanzhi; Wang, Yanyan; Zhang, Ningzhi; He, Jun; Huang, Hui; Liu, Fengling; Wei, Suju; Dong, Qian; Wu, Jing; Lin, Keke; Chen, Weixi; Xiang, Jiale; Jin, Hui; Peng, Zhiyu; Zhao, Qiang; Li, Wei; Jiang, Da; Banerjee, Santasree
- 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.
- Subjects
BRCA genes; TUMOR suppressor genes; HEREDITARY cancer syndromes; FRAMESHIFT mutation; OVARIAN cancer; FAMILY history (Medicine); SUPPRESSOR mutation
- Publication
Oncology Letters, 2019, Vol 17, Issue 3, p3350
- ISSN
1792-1074
- Publication type
Article