Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma.

ABSTRACT: The last two decades have seen significant advancement in our understanding of colorectal tumors with DNA mismatch repair (MMR) deficiency. The ever-emerging revelations of new molecular and genetic alterations in various clinical conditions have necessitated constant refinement of disease terminology and classification. Thus, a case with the clinical condition of hereditary non-polyposis colorectal cancer as defined by the Amsterdam criteria may be one of Lynch syndrome characterized by a germline defect in one of the several MMR genes, one of the yet-to-be-defined "Lynch-like syndrome" if there is evidence of MMR deficiency in the tumor but no detectable germline MMR defect or tumor MLH1 promoter methylation, or "familial colorectal cancer type X" if there is no evidence of MMR deficienc

SUBMITTER: Shia J 

PROVIDER: S-EPMC5018830 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature