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A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
Cancer Genet Cytogenet. 2008 Apr 15; 182(2):136-9.CG

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+Show Affiliations

Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18406877

Citation

Park, Seo-Jin, et al. "A Novel Missense MSH2 Gene Mutation in a Patient of a Korean Family With Hereditary Nonpolyposis Colorectal Cancer." Cancer Genetics and Cytogenetics, vol. 182, no. 2, 2008, pp. 136-9.
Park SJ, Lee KA, Park TS, et al. A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet. 2008;182(2):136-9.
Park, S. J., Lee, K. A., Park, T. S., Kim, N. K., Song, J., Kim, B. Y., & Choi, J. R. (2008). A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. Cancer Genetics and Cytogenetics, 182(2), 136-9. https://doi.org/10.1016/j.cancergencyto.2008.01.011
Park SJ, et al. A Novel Missense MSH2 Gene Mutation in a Patient of a Korean Family With Hereditary Nonpolyposis Colorectal Cancer. Cancer Genet Cytogenet. 2008 Apr 15;182(2):136-9. PubMed PMID: 18406877.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. AU - Park,Seo-Jin, AU - Lee,Kyung-A, AU - Park,Tae Sung, AU - Kim,Nam Kyu, AU - Song,Jaewoo, AU - Kim,Bo-Young, AU - Choi,Jong Rak, PY - 2007/12/03/received PY - 2008/01/13/accepted PY - 2008/4/15/pubmed PY - 2008/6/5/medline PY - 2008/4/15/entrez SP - 136 EP - 9 JF - Cancer genetics and cytogenetics JO - Cancer Genet. Cytogenet. VL - 182 IS - 2 N2 - 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. SN - 0165-4608 UR - https://www.unboundmedicine.com/medline/citation/18406877/A_novel_missense_MSH2_gene_mutation_in_a_patient_of_a_Korean_family_with_hereditary_nonpolyposis_colorectal_cancer_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0165-4608(08)00033-2 DB - PRIME DP - Unbound Medicine ER -