Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

ABSTRACT:

Background and aim

Tumor testing of colorectal cancers (CRC) for mismatch repair (MMR) deficiency is an effective approach to identify carriers of germline MMR gene mutation (Lynch syndrome). The aim of this study was to identify MMR gene mutation carriers in two cohorts of population-based CRC utilizing a combination of tumor and germline testing approaches.

Methods

Colorectal cancers from 813 patients diagnosed with CRC < 60 years of age from the Australasian Colorectal Cancer Family Registry (ACCFR) and from 826 patients from the Melbourne Collaborative Cohort Study (MCCS) were tested for MMR protein expression using immunohistochemistry, microsatellite instability (MSI), BRAF^V600E somatic mutation, and for MLH1 methylation. MMR gene mutation testing (Sanger se

SUBMITTER: Buchanan DD 

PROVIDER: S-EPMC5140773 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature