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Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.

Disease markers - 1 Jan 2020

Zaib Tahir, Zhang Chunhui, Saleem Komal, Xu Lidan, Qin Qian, Wang Yusi, Ji Wei, Khan Hanif, Yu Hanfei, Zhu Siqi, Gao Wei, Huang Yun, Jia Xueyuan, Wu Jie, Song Hongtao, Zhang Yanqiao, Sun Wenjing, Fu Songbin

Abstract excerpt

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRCs) inherited in an autosomal-dominant manner. Here, we reported a multigeneration Chinese family clinically diagnosed with LS according to the Amsterdam II criteria. To identify the underlying causative gene for LS in this family, whole-exome sequencing (WES) was performed. A germline missense variant (c.2054C>T:p.S685F) in exon 18 of MLH1...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Association Studies

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Share to Mismatch Repair Endonuclease PMS2

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Identifiers

PMID: 32076465
DOI: 10.1155/2020/8360841
PMCID: PMC7008259

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