First report of somatic mosaicism for mutations in STK11 in four patients with Peutz–Jeghers syndrome

This report details the first four reported cases of somatic mosaicism for STK11 associated with PJS. This shows that techniques in addition to direct sequencing such as MLPA must be used to assess for large scale genomic deletions in patients meeting clinical diagnostic criteria for PJS. This also adds further weight to the hypothesis of a single genetic locus for PJS.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research