Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.

ABSTRACT:

Objective

Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice. Can these tumors be identified by means of an already available test?

Methods

We describe seven tumors harboring a POLE pathogenic variant, among eight patients with tumors harboring multiple BRCA1/2 variants (from 4 to 20). All patients were managed at Institut Curie, Paris. Five patients were selected because of unexpected tumor BRCA testing results with multiple variants and another three patients were selected because of a POLE pathogenic variant detected by large tumor testing. We looked for other tumor

SUBMITTER: Villy MC 

PROVIDER: S-EPMC8435919 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature