Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer
predisposition syndrome that results from biallelic germline mutations in one of the four …

Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer
susceptibility syndrome resulting from biallelic germline loss‐of‐function mutations in one of …

Purpose The clinical consequences of PMS2 germline mutations are poorly understood
compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of …

OBJECTIVE: Lynch syndrome (LS) is a hereditary syndrome that predisposes to multiple
malignancies including endometrial cancer (EC). We aimed to evaluate a diagnostic …

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer
predisposition syndrome caused by biallelic germline mutations in one of four mismatch …

Background & Aims Lynch syndrome is a form of hereditary colorectal cancer (CRC) caused
by pathogenic germline variants (PV) in DNA mismatch repair (MMR) genes. Currently …

A subset of DNA variants causes genetic disease through aberrant splicing. Experimental
splicing assays, either RT‐PCR analyses of patient RNA or functional splicing reporter …

Background & Aims Constitutional mismatch repair deficiency (CMMRD) is a rare recessive
childhood cancer predisposition syndrome caused by germline mismatch repair variants …

It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the
Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer …

Monoallelic PMS2 germline mutations cause 5%–15% of Lynch syndrome, a midlife cancer
predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional …