Article
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
Human mutation - 1 Jun 2013
Ingham Danielle, Diggle Christine P, Berry Ian, Bristow Claire A, Hayward Bruce E, Rahman Nazneen, Markham Alexander F, Sheridan Eamonn G, Bonthron David T, Carr Ian M
Abstract excerpt
Heterozygous mutations in DNA mismatch repair (MMR) genes result in predisposition to colorectal cancer (hereditary nonpolyposis colorectal cancer or Lynch syndrome). Patients with biallelic mutations in these genes, however, present earlier, with constitutional mismatch repair deficiency cancer syndrome (CMMRD), which is characterized by a spectrum of rare childhood malignancies and café-au-lait skin patches....
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