title: A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
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.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.
authors.forename: Seo-Jin
authors.initials: SJ
authors.lastname: Park
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Nam Kyu
authors.initials: NK
authors.lastname: Kim
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Bo-Young
authors.initials: BY
authors.lastname: Kim
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics*; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics*; D053843:DNA Mismatch Repair; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein