Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report

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

doi:10.3892/ol.2019.9950

Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report

Authors:
- Yanzhi Cui
- Yanyan Wang
- Ningzhi Zhang
- Jun He
- Hui Huang
- Fengling Liu
- Suju Wei
- Qian Dong
- Jing Wu
- Keke Lin
- Weixi Chen
- Jiale Xiang
- Hui Jin
- Zhiyu Peng
- Qiang Zhao
- Wei Li
- Da Jiang
- Santasree Banerjee
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Affiliations: Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China, BGI Genomics, BGI‑Shenzhen, Shenzhen, Guangdong 518083, P.R. China, Prenatal Diagnosis Center, Department of Obstetrics, Fuyang People's Hospital, Fuyang, Anhui 236000, P.R. China, Changsha Hospital for Maternal and Child Health Care, Changsha, Hunan 410007, P.R. China, Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat‑Sen University, Jiangmen, Guangdong 529030, P.R. China
Published online on: January 21, 2019 https://doi.org/10.3892/ol.2019.9950
Pages: 3350-3354
Copyright: © Cui et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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.

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