Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome

Biallelic mismatch repair deficiency (BMMRD) syndrome, more commonly known as constitutional MMR deficiency (CMMRD) syndrome, is a rare, autosomal recessive disease that manifests in childhood leukemias, lymphomas, brain tumors (high-grade glioma, medulloblastoma, or primitive neuroectodermal tumors), intestinal polyposis, and small bowel and colorectal adenocarcinomas (Online Mendelian Inheritance in Man [OMIM] database accession no. 276300). Although there have been case reports suggestive of BMMRD from as long ago as the 1950s,1 the first descriptions of the syndrome as we understand it today were in concurrent 1999 publications.
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Commentary Source Type: research