Background & Aims: Although the clinical phenotype of Lynch syndrome (also known as
hereditary nonpolyposis colorectal cancer) has been well described, little is known about …

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

Background# x0026; Aims: The role of the mismatch repair gene PMS2 in hereditary
nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different …

Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …

Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch
syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied …

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

Background Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and
PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal …

Background & Aims Patients with Lynch syndrome carry germline mutations in single alleles
of genes encoding the mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2; …

Since the discovery of the major human genes with DNA mismatch repair (MMR) function in
1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly …

Background Reported prevalence, penetrance and expression of deleterious mutations in
the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences …