Article
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
European journal of cancer (Oxford, England : 1990) - 1 May 2015
Durno Carol A, Sherman Philip M, Aronson Melyssa, Malkin David, Hawkins Cynthia, Bakry Doua, Bouffet Eric, Gallinger Steven, Pollett Aaron, Campbell Brittany, Tabori Uri
Abstract excerpt
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an autosomal dominant condition caused by heterozygous germ-line mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Inheriting biallelic (homozygous) mutations in any of the MMR genes results in a different clinical syndrome termed biallelic mismatch repair deficiency (BMMR-D) that is characterised by...
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