Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes
MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial …

Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of
carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1 …

Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were
traditionally thought to be at comparable risk of developing a range of different …

Once called “silent mutations” and assumed to have no effect on protein structure and
function, synonymous variants are now recognized to be drivers for some cancers. There …

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

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

Background. Lynch syndrome is the most common genetic predisposition for hereditary
cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased …

Purpose Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a
recessive childhood cancer predisposition syndrome known as constitutional mismatch …

Background & Aims Patients with Lynch syndrome are offered the same colorectal cancer
(CRC) surveillance programs (colonoscopy every 2 years), regardless of the pathogenic …

Background This study investigates the potential influence of genotype and parent‐of‐origin
effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying …