Article
Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome.
Human pathology - 1 Aug 2018
Hemminger Jessica A, Pearlman Rachel, Haraldsdottir Sigurdis, Knight Deborah, Jonasson Jon Gunnlaugur, Pritchard Colin C, Hampel Heather, Frankel Wendy L
Abstract excerpt
Lynch syndrome (LS) is the most common form of hereditary colon cancer. Germline mutations in the mismatch-repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2, followed by a second hit to the remaining allele, lead to cancer development. Universal tumor screening for LS is routinely performed on colon cancer, and screening has identified patients with unexplained MMR deficiency that lack MLH1 methylation and a...
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