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Article

Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.

Biochemical genetics - 1 Feb 2012

Fan Yimei, Chen Jinyun, Wang Wei, Wu Puyuan, Zhi Wenxian, Xue Binshuang, Zhang Wanfen, Wang Yaping

Abstract excerpt

Missense mutations in MLH1 have frequently been detected in patients with Lynch syndrome, but their genetic significance has not been extensively assessed. In this study, we attempt to evaluate the etiological role of eight MLH1 missense variants. The variants were analyzed for their ability to affect MLH1 protein interaction with its partner PMS2 in vivo employing a yeast two-hybrid system. In addition, a SIFT...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Repair Enzymes

Share to Mismatch Repair Endonuclease PMS2

Share to Mutation, Missense

Share to MutL Protein Homolog 1

Share to Two-Hybrid System Techniques

Source

Identifiers

PMID: 21952876
DOI: 10.1007/s10528-011-9467-z

Genes

MLH1
PMS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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