The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer

Sanrong Li; Jing Ma; Caiying Hu; Xing Zhang; Deyong Xiao; Lili Hao; Wenjun Xiao; Jichun Yang; Ling Hu; Xiaowei Liu; Minghui Dong; Duan Ma; Rensheng Liu

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자료유형: 학술저널

저자정보: Sanrong Li (Wuhan Red Cross Hospital) Jing Ma (Children’s Hospital of Fudan University) Caiying Hu (Wuhan Red Cross Hospital) Xing Zhang (Wuhan Red Cross Hospital) Deyong Xiao (School of Basic Medical Sciences Fudan University) Lili Hao (School of Basic Medical Sciences Fudan University) Wenjun Xiao (School of Basic Medical Sciences Fudan University) Jichun Yang (School of Basic Medical Sciences Fudan University) Ling Hu (Wuhan University) Xiaowei Liu (Wuhan Red Cross Hospital) Minghui Dong (Wuhan Red Cross Hospital) Duan Ma (School of Basic Medical Sciences Fudan University) Rensheng Liu (Wuhan Red Cross Hospital)

저널정보: 한국유방암학회 Journal of Breast Cancer Journal of Breast Cancer Vol.21 No.3

발행연도: 2018.1

수록면: 330 - 333 (4page)

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In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.

참고문헌 (21)

참고문헌 신청

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