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Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication
DNA Sequencing • Multiplex Ligation-dependent Probe Amplification (MLPA)
See Laboratory Report
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant genetic disorder characterized by the familial accumulation of early onset colorectal, endometrial and other tumors, and accounts for approximately 3-5% of all colon cancer cases. HNPCC is caused by germline mutations in four genes involved in the DNA mismatch repair pathway: MLH1, MSH2, MSH6, and PMS2. MLH1 and MSH2 mutations account for approximately 90% of HNPCC cases, MSH6 accounts for approximately 7-10%, while PMS2 accounts for less than 5%. The prevalence of PMS2 mutations is not well established but some studies have shown that large deletions account for approximately 21-37% of PMS2 mutations. The prevalence of sequence variants is not well established.
Hereditary Nonpolyposis Colon Cancer (HNPCC),HNPCC Mismatch Repair Gene Mutation
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