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 language | English |
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Pages (from-to) | 136-139 |
Number of pages | 4 |
Journal | Cancer genetics and cytogenetics |
Volume | 182 |
Issue number | 2 |
DOIs | |
Publication status | Published - 2008 Apr 15 |
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Cancer Research