A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer

Seo Jin Park, Kyunga Lee, Tae Sung Park, Namkyu Kim, Jaewoo Song, Bo Young Kim, Jong Rak Choi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.

Original languageEnglish
Pages (from-to)136-139
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume182
Issue number2
DOIs
Publication statusPublished - 2008 Apr 15

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
Mutation
Missense Mutation
Genes
Colorectal Neoplasms
Exons
Mothers
DNA Mismatch Repair
Germ-Line Mutation
Introns
Siblings
Phenotype
Neoplasms

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Park, Seo Jin ; Lee, Kyunga ; Park, Tae Sung ; Kim, Namkyu ; Song, Jaewoo ; Kim, Bo Young ; Choi, Jong Rak. / A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. In: Cancer Genetics and Cytogenetics. 2008 ; Vol. 182, No. 2. pp. 136-139.
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abstract = "Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.",
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A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. / Park, Seo Jin; Lee, Kyunga; Park, Tae Sung; Kim, Namkyu; Song, Jaewoo; Kim, Bo Young; Choi, Jong Rak.

In: Cancer Genetics and Cytogenetics, Vol. 182, No. 2, 15.04.2008, p. 136-139.

Research output: Contribution to journalArticle

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