Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.

ABSTRACT:

Background

Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history.

Main body

Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the

SUBMITTER: Trujillo-Rojas MA 

PROVIDER: S-EPMC10589993 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature