Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

doi:10.1136/bmjopen-2015-010293

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Article

Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

1 Feb 2016

Abstract excerpt

OBJECTIVES: 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...

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PMID: 26895986
DOI: 10.1136/bmjopen-2015-010293

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