下一代测序揭示了一名印度家族性乳腺癌患者基因中的一个无义突变（p.Arg364Ter）。
Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in Gene in an Indian Patient with Familial Breast Cancer.
作者信息
Sharma Bhai Pratibha, Sharma Deepak, Saxena Renu, Verma Ishwar C
机构信息
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
Department of Biotechnology, Indian Institute of Technology Roorkee, Roorkee, India.
出版信息
Breast Care (Basel). 2017 May;12(2):114-116. doi: 10.1159/000457786. Epub 2017 Mar 21.
BACKGROUND
The MRN complex consisting of MRE11A-RAD50-NBS1 proteins is involved in the repair of double-strand breaks, and mutations in genes coding for the MRN complex have been identified in families with breast and ovarian cancer.
CASE REPORT
In a negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the gene (NM_005590 c.1090C>T: p.Arg364Ter). This mutation results in a shorter mutated protein lacking 2 DNA binding domains (the GAR domain and the RAD50 binding site), abolishing the function of protein.
CONCLUSION
This case provides insight into the role of the gene in causing breast cancer susceptibility in families, and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.
背景
由MRE11A-RAD50-NBS1蛋白组成的MRN复合物参与双链断裂的修复，并且在乳腺癌和卵巢癌家族中已鉴定出编码MRN复合物的基因突变。
病例报告
在一个有乳腺癌和子宫内膜癌阳性家族史的阴性家族中，基于下一代测序的基因检测板检测在该基因（NM_005590 c.1090C>T：p.Arg364Ter）中发现了一个突变。该突变导致产生一种较短的突变蛋白，缺少2个DNA结合结构域（GAR结构域和RAD50结合位点），从而使该蛋白功能丧失。
结论
本病例为该基因在家族性乳腺癌易感性中的作用提供了见解，并支持在具有遗传性乳腺癌易感性的病例中使用多基因检测板检测。
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