Unique MLH1 mutations in colonic adenomas in an obligate germline Lynch syndrome carrier.

Stefano SerraJose-Mario Capo-ChichiAoife J McCarthyPeter SabatiniRunjan Chetty

Published in: Journal of clinical pathology (2019)

We highlight an MLH1 variant in the colonic adenomas in an obligate Lynch syndrome carrier that resulted in PMS2 protein loss in the absence of mutations of the PMS2 gene.

Keyphrases

case report
ulcerative colitis
genome wide
copy number
dna repair
dna methylation
small molecule
oxidative stress