机构：[1]Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000河北医科大学第四医院肿瘤内科临床科室[2]BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083[3]Prenatal Diagnosis Center, Department of Obstetrics, Fuyang People's Hospital, Fuyang, Anhui 236000[4]Changsha Hospital for Maternal and Child Health Care, Changsha, Hunan 410007[5]Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat‑Sen University, Jiangmen, Guangdong 529030, P.R. China
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.
基金：
Special Foundation for High-level Talents of Guangdong [2016TX03R171]
第一作者机构：[1]Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000
共同第一作者：
通讯作者：
通讯机构：[1]Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000[2]BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083[*1]BGI Genomics, BGI-Shenzhen, Building 7, BGI Park, 21 Hongan 3rd Street, Yantian, Shenzhen, Guangdong 518083, P.R. China[*2]Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, 12 Jiankang Road, Shijiazhuang, Hebei 050000, P.R. China
推荐引用方式(GB/T 7714)：
Cui Yanzhi,Wang Yanyan,Zhang Ningzhi,et al.Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report[J].ONCOLOGY LETTERS.2019,17(3):3350-3354.doi:10.3892/ol.2019.9950.
APA：
Cui, Yanzhi,Wang, Yanyan,Zhang, Ningzhi,He, Jun,Huang, Hui...&Banerjee, Santasree.(2019).Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.ONCOLOGY LETTERS,17,(3)
MLA：
Cui, Yanzhi,et al."Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report".ONCOLOGY LETTERS 17..3(2019):3350-3354
