Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Alisa OlkinuoraTaina T NieminenEmma MårtenssonAnna RohlinAri RistimäkiLaura KoskenvuoAnna Lepistönull nullSamuel Gebre-MedhinMargareta NordlingPäivi PeltomäkiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2018)
Our results show that a biallelic nonsense variant of MLH3 underlies a novel syndrome with susceptibility to classical or attenuated adenomatous polyposis and possibly extracolonic tumors, including breast cancer.