Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

ABSTRACT:

Background & aims

Direct germline analysis could be used to screen high-risk patients for mutations in DNA mismatch repair genes associated with Lynch Syndrome. We examined the prevalence of mutations in MLH1, MSH2, and MSH6 in a population-based sample of patients with young-onset (age <50 years) colorectal cancer (CRC).

Methods

Young-onset CRC cases were randomly selected from 3 Colon Cancer Family Registry sites. DNA was extracted from peripheral blood leukocytes; MLH1, MSH2, and MSH6 were sequenced, and duplication and deletion analyses was performed for MLH1 and MSH2. Results were reported as deleterious or suspected deleterious, likely neutral, variant of uncertain significance, or no alteration detected. Germline data were compared to Amsterdam II criteria (ACII) and

SUBMITTER: Limburg PJ 

PROVIDER: S-EPMC3058119 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature