Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer

Seoyoung Yoon, Tae Sung Park, Nam Kyu Kim, Kyung A. Lee, Juwon Kim, Jaewoo Song, Bo Young Kim, Jong Rak Choi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.

Original languageEnglish
Pages (from-to)61-64
Number of pages4
JournalCancer genetics and cytogenetics
Volume188
Issue number2
DOIs
Publication statusPublished - 2009 Jan 15

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

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