Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.

ABSTRACT:

Background

For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effective way of identifying the estimated 3% of EC caused by LS.

Methods

A retrospective national population-based observational study was conducted using comprehensive national data collections of functional, somatic and germline MMR tests available via the English National Cancer Registration Dataset. For all EC diagnosed in 2019, the proportion tested, median time to test, yield of abnormal results and factors influencing testing pathway initiation were examined.

Results

There was an immunohistochemistry (IHC) or microsatellite instabi

SUBMITTER: Loong L 

PROVIDER: S-EPMC11671912 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature