Article
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.
Clinical genetics - 1 Apr 2025
Johannesen Katrine M, Karstensen John Gásdal, Rasmussen Andreas Ørslev, Scott Emma Adine Hoxer, Birkedal Ulf, Hansen Thomas V O, Steenholdt Casper, Jelsig Anne Marie
Abstract excerpt
An increasing number of autosomal recessive forms of adenomatous polyposis have been described, but some in very few cases. Here, we describe a rare case of biallelic germline pathogenic variants in the MLH3 gene, implicating it as a potential cause of early colorectal cancer. The patient, a 47-year-old woman, presented with rectal bleeding, leading to the discovery of a malignant rectal tumor and adenomas during...
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