Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
Author
Summary, in English
In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.
Department/s
- Breastcancer-genetics
- Division of Clinical Genetics
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
- EpiHealth: Epidemiology for Health
Publishing year
2014
Language
English
Pages
352-355
Publication/Series
Molecular Genetics & Genomic Medicine
Volume
2
Issue
4
Full text
Links
Document type
Journal article
Publisher
John Wiley & Sons Inc.
Topic
- Medical Genetics
Status
Published
ISBN/ISSN/Other
- ISSN: 2324-9269