Biallelic MYH germline mutations as cause of Muir-Torre syndrome

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.