Article
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.
Human mutation - 1 Feb 2008
Etzler J, Peyrl A, Zatkova A, Schildhaus H-U, Ficek A, Merkelbach-Bruse S, Kratz C P, Attarbaschi A, Hainfellner J A, Yao S, Messiaen L, Slavc I, Wimmer K
Abstract excerpt
Heterozygous germline mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 cause hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, a dominantly inherited cancer susceptibility syndrome. Recent reports provide evidence for a novel recessively inherited cancer syndrome with constitutive MMR deficiency due to biallelic germline mutations in one of the MMR genes....
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