Differentiating Lynch-like from Lynch syndrome

JM Carethers - Gastroenterology, 2014 - gastrojournal.org
Lynch syndrome is a hereditary condition found in w3% of all colorectal cancer patients and
is defined by germline inactivation in one of the DNA mismatch repair (MMR) genes
(hMSH2, hMLH1, hMSH6, hPMS2). 1, 2 One allele is inactivated in every cell in a Lynch
syndrome patient, most commonly by pathogenic mutation or deletion of hMSH2 or hMLH1,
or less commonly by pathogenic mutation of hMSH6 or hPMS2. In some Lynch syndrome
patients, germline deletion of the 3 0 end of EPCAM (also known as TACSTD1) is found, and …