DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma.

ABSTRACT:

Purpose

Lynch syndrome (LS) is a cancer predisposition syndrome caused by a germline loss-of-function mutation in a mismatch repair (MMR) gene. While sarcomas are not classically considered LS cancers, we investigated the MMR status and clinical features of sarcomas in LS patients to help inform optimal treatment strategies.

Methods

A prospectively maintained institutional clinical cancer genetics database was queried for LS patients (defined by pathogenic germline mutation in a MMR gene) with a documented diagnosis of sarcoma between 1998-2022. Tumor MMR status was determined by immunohistochemistry (IHC) for MMR proteins and secondarily by PCR assay if IHC was normal or intact.

Results

Among the 30 LS patients with sarcoma, germline mutations were most common in

SUBMITTER: Denu RA 

PROVIDER: S-EPMC11967435 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature