Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?

ABSTRACT:

Background

Combined immunotherapy has significantly improved survival of patients with advanced melanoma, but there are still patients that do not benefit from it. Early biomarkers that indicate potential resistance would be highly relevant for these patients.

Methods

We comprehensively analyzed tumor and blood samples from patients with advanced melanoma, treated with combined immunotherapy and performed descriptive and survival analysis.

Results

Fifty-nine patients with a median follow-up of 13 months (inter quartile range (IQR) 11-15) were included. Interestingly, nine patients were found to have pathogenic or likely pathogenic (P/LP) germline variants in one of these genes: BRCA2, POLE, WRN, FANCI, CDKN2A, BAP1, PALB2 and RAD54B. Most of them are involved in DNA r

SUBMITTER: Amaral T 

PROVIDER: S-EPMC7281129 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature