This guideline presents recommendations for the management of patients with hereditary
gastrointestinal cancer syndromes. The initial assessment is the collection of a family history …

Microsatellite instability (MSI) is a molecular marker of a deficient mismatch repair (MMR)
system and occurs in approximately 15% of colorectal cancers (CRCs), more frequently in …

Disclaimer: The practice guidelines of the American College of Medical Genetics and
Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed …

Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …

Hereditary colorectal cancer (HCRC) accounts for< 5% of all colorectal cancer cases. Some
of the unique characteristics commonly encountered in HCRC cases include early age of …

Context Providing accurate estimates of cancer risks is a major challenge in the clinical
management of Lynch syndrome. Objective To estimate the age-specific cumulative risks of …

The British Society of Gastroenterology (BSG) and the Association of Coloproctology for
Great Britain and Ireland (ACPGBI) commissioned this update of the 2002 guidance. The …

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

The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to
assist health care providers with the appropriate provision of genetic testing and …

Deficient DNA mismatch repair (MMR) boosts the accumulation of frameshift mutations in
genes encompassing coding microsatellites (cMS). This results in the translation of proteins …