A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer |
| |
Authors: | Park Seo-Jin Lee Kyung-A Park Tae Sung Kim Nam Kyu Song Jaewoo Kim Bo-Young Choi Jong Rak |
| |
Institution: | Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea. |
| |
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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|