Fig. 1: Discovery of the pathogenic MLH3 variant in five polyposis families
From: Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
(a) Flow-chart of this investigation including the Finnish and Swedish arms. MLH3 findings and methods used for their identification are shown. (b) Pedigrees of polyposis families with the MLH3 p.Ser1188Ter variant. Families 158, 168, 177, and 1007 are from Finland and family SWE is from Sweden. The pedigrees were generated with Pedigree Chart Designer. Numbers below the symbols are patient identifiers. Arrow denotes the index person. Carrier status for the MLH3 c.3563C>G, p.Ser1188Ter variant is shown (+/+, homozygous carrier, +/− heterozygous carrier). Tumor manifestations and age at diagnosis (years) are given below the patient symbol. AFAP attenuated familial adenomatous polyposis, ES exome sequencing, FAP familial adenomatous polyposis, LS Lynch syndrome.
