Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination

ConclusionsFor the genetic analysis of MTS, the possibility of rare copy number variations ofMLH1, as well asMSH2 variations, should be considered. RNA-based screening using puromycin is recommended in order to identify such variations. It remains unclear why only the proband among the pedigree had skin malignancies, however, the skin carcinogenesis might have been related to occupational radiation exposure.
Source: European Journal of Dermatology - Category: Dermatology Source Type: research