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Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort
- Publisher :
- The University of North Carolina at Chapel Hill University Libraries
-
Abstract
- Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a CRC demonstrating solitary loss of PMS2 expression.
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi...........cd6e373734b0c3538a8588e8115de735