The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.

ABSTRACT:

Background

Lynch syndrome (LS) predisposes to endometrial cancer (EC), colorectal cancer, and other cancers through inherited pathogenic variants affecting mismatch-repair (MMR) genes. Diagnosing LS in women with EC can reduce subsequent cancer mortality through colonoscopic surveillance and aspirin chemoprevention; it also enables cascade testing of relatives. A growing consensus supports LS screening in EC; however, the expected proportion of test positives, and optimal testing strategy is uncertain. Previous studies from insurance-based healthcare systems were limited by narrow selection criteria, failure to apply reference standard tests consistently, and poor conversion to definitive testing. The aim of this study was to establish the prevalence of LS and the diagnostic accura

SUBMITTER: Ryan NAJ 

PROVIDER: S-EPMC7497985 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature