Multitumor case series of germline brca1, brca2 and chek2-mutated patients responding favorably on immune checkpoint inhibitors

Lisa Kinget, Oliver Bechter, Kevin Punie, Philip R. Debruyne, Hilde Brems, Paul Clement, Eduard Roussel, Yannick Van Herck, Maarten Albersen, Marcella Baldewijns, Patrick Schöffski, Benoit Beuselinck*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

In recent years, immune checkpoint inhibitors (ICPI) have become widely used for multiple solid malignancies. Reliable predictive biomarkers for selection of patients who would benefit most are lacking. Several tumor types with somatic or germline alterations in genes involved in the DNA damage response (DDR) pathway harbor a higher tumor mutational burden, possibly associated with an increased tumoral neoantigen load. These neoantigens are thought to lead to stronger immune activation and enhanced response to ICPIs. We present a series of seven patients with different malignancies with germline disease-associated variants in DDR genes (BRCA1, BRCA2, CHEK2) responding favorably to ICPIs.

Original languageEnglish
Pages (from-to)3227-3239
Number of pages13
JournalCurrent Oncology
Volume28
Issue number5
DOIs
Publication statusPublished - Oct 2021
Externally publishedYes

ASJC Scopus subject areas

  • Oncology

Keywords

  • BRCA1
  • BRCA2
  • CHEK2
  • DNA damage response
  • Immune checkpoint inhibitors

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