Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
Författare
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.
Avdelning/ar
- Bröstcancer-genetik
- Avdelningen för klinisk genetik
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
- EpiHealth: Epidemiology for Health
Publiceringsår
2014
Språk
Engelska
Sidor
352-355
Publikation/Tidskrift/Serie
Molecular Genetics & Genomic Medicine
Volym
2
Issue
4
Fulltext
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
John Wiley & Sons Inc.
Ämne
- Medical Genetics
Aktiv
Published
ISBN/ISSN/Övrigt
- ISSN: 2324-9269