Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome.

@article{Miyakura2012PathogenicityOA,
  title={Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome.},
  author={Yasuyuki Miyakura and Kokichi Sugano and Tadashi Nomizu and Alan Kawarai Lefor and Yoshikazu Yasuda},
  journal={Japanese journal of clinical oncology},
  year={2012},
  volume={42 1},
  pages={78-82}
}
Lynch syndrome is caused by germline mutations of the DNA mismatch repair genes. Missense mutations are often difficult to evaluate as pathogenic. Previously, we reported a missense mutation in exon 12 at codon 600 of the MSH2 gene, causing a substitution of GTT (Val) for GCT (Ala) in a 35-year-old-man with rectal cancer, while the pathogenicity of this mutation is still unclear. In this report, we confirm the same mutation in his 66-year-old mother who had cecal cancer. PCR/direct sequencing… CONTINUE READING
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