Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.

ABSTRACT:

Importance

Microsatellite (MS) instability (MSI-H) occurs frequently in Lynch syndrome (LS)-associated tumors and is associated with response to immune checkpoint blockade (ICB) therapy. MSI-H is conferred by germline or somatic variants in mismatch repair genes. The contribution of somatic oncogenesis to MSI-H in pancreatic cancer (PC) is unknown.

Objective

To evaluate an LS-related PC cohort to define clinicogenomic features, describe somatic MSI-H cases (germline negative), characterize response to ICB, and guide preferred MS testing methods.

Design, setting, and participants

This single-institution, retrospective analysis was conducted from March 2012 to July 2023 at Memorial Sloan Kettering Cancer Center and included 55 patients with PC and either an LS germline

SUBMITTER: O'Connor CA 

PROVIDER: S-EPMC11378065 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature