CMMRD caused by PMS1 mutation in a sudanese consanguineous family

AbstractA consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research