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Article

Characterization of a germline variant TNS1 c.2999-1G > C in a hereditary cancer syndrome family.

Gene - 25 May 2024

Di Xiaotang, Wang Ding, Wu Jinzheng, Zhu Xiaofang, Wang Yang, Yan Jinhua, Wen Liang, Jiang Hao, Wen Doudou, Shu Bo, Zhang Shubing

Abstract excerpt

Hereditary cancer syndromes result from the presence of inherited pathogenic variants within susceptibility genes. However, the susceptibility genes associated with hereditary cancer syndrome remain predominantly unidentified. Here, we reported a case of hereditary cancer syndrome observed in a Chinese family harboring a germline mutation in Tensin1 (TNS1). We described a 59-year-old female patient presented with...

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Identifiers

PMID: 38387708
DOI: 10.1016/j.gene.2024.148304

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