Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.

ABSTRACT:

Background

One in five patients with sebaceous tumours (STs) may have Lynch syndrome (LS), an inherited disorder that increases the risk of developing cancer. Patients with LS benefit from cancer surveillance and prevention programmes and immunotherapy. While universal tumour mismatch repair (MMR) deficiency testing is recommended in colorectal and endometrial cancers to screen for LS, there is no consensus screening strategy for STs, leading to low testing rates and inequity of care.

Objectives

To assess a low-cost and scalable sequencing-based microsatellite instability (MSI) assay, previously shown to enhance LS screening of colorectal cancers, for MMR deficiency detection in STs against the current clinical standard of immunohistochemistry (IHC).

Methods

Consecuti

SUBMITTER: Gallon R 

PROVIDER: S-EPMC12099064 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature