title: Biallelic MYH germline mutations as cause of Muir-Torre syndrome.
abstract: Muir-Torre syndrome is a rare, inherited disease predisposing of gastrointestinal and cutaneous tumours, such as keratoacanthomas and sebaceous gland adenomas. Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations. This finding demonstrates that MYH gene analysis should be considered in Muir-Torre families where no mismatch repair gene mutations have been found. Furthermore, this report contributes to characterize the clinical phenotype caused by biallelic mutations in MYH gene, which may share with other hereditary colon cancer syndromes.
authors.affiliation: Medical Oncology Department, Ramón y Cajal University Hospital, Carretera de Colmenar, Km 9,100, 28034, Madrid, Spain. carmenguilleponce@yahoo.es
authors.forename: Carmen
authors.initials: C
authors.lastname: Guillén-Ponce
authors.forename: Adela
authors.initials: A
authors.lastname: Castillejo
authors.forename: Víctor M
authors.initials: VM
authors.lastname: Barberá
authors.forename: J Carlos
authors.initials: JC
authors.lastname: Pascual-Ramírez
authors.forename: Encarnación
authors.initials: E
authors.lastname: Andrada
authors.forename: M Isabel
authors.initials: MI
authors.lastname: Castillejo
authors.forename: Carla
authors.initials: C
authors.lastname: Guarinós
authors.forename: M J
authors.initials: MJ
authors.lastname: Molina-Garrido
authors.forename: Alfredo
authors.initials: A
authors.lastname: Carrato
authors.forename: J L
authors.initials: JL
authors.lastname: Soto
mesh_terms: D000368:Aged; D000483:Alleles; D015179:Colorectal Neoplasms / Q000235:genetics; D053843:DNA Mismatch Repair / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007636:Keratoacanthoma / Q000209:etiology*; D008297:Male; D055653:Muir-Torre Syndrome / Q000150:complications* / Q000235:genetics*; D009154:Mutation