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

作者：Park Seo Jin; Lee Kyung A; Park Tae Sung; Kim Nam Kyu; Song Jaewoo; Kim Bo Young; Choi Jong Rak^*

来源：Cancer Genetics and Cytogenetics, 2008, 182(2): 136-139.

DOI：10.1016/j.cancergencyto.2008.01.011

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.

• 出版日期2008-4-15