Germline variants in exonic regions have limited impact on immune checkpoint blockade clinical outcomes in advanced melanoma | Zendy

Montaudié Henri | Zendy; Beranger Guillaume Emmanuel | Zendy; Reinier Frédéric | Zendy; Nottet Nicolas | Zendy; Martin Hélène | Zendy; PicardGauci Alexandra | Zendy; Troin Laura | Zendy; Ballotti Robert | Zendy; Passeron Thierry | Zendy

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Germline variants in exonic regions have limited impact on immune checkpoint blockade clinical outcomes in advanced melanoma

Author(s) -

Montaudié Henri,

Beranger Guillaume Emmanuel,

Reinier Frédéric,

Nottet Nicolas,

Martin Hélène,

PicardGauci Alexandra,

Troin Laura,

Ballotti Robert,

Passeron Thierry

Publication year - 2021

Publication title -

pigment cell and melanoma research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.618

H-Index - 105

eISSN - 1755-148X

pISSN - 1755-1471

DOI - 10.1111/pcmr.12958

Subject(s) - medicine , exome sequencing , melanoma , germline , immune checkpoint , exome , oncology , blockade , cohort , immune system , adverse effect , biomarker , immunotherapy , immunology , cancer research , mutation , biology , genetics , gene , receptor

Immune checkpoint inhibition (ICI) treatments improve outcomes for metastatic melanoma; however, up to 60% of treated patients do not respond to ICI and/or develop immune‐related adverse events (irAEs). Currently, robust and reliable biomarker to predict response and/or occurrence of irAEs to ICI are missing. Herein, we wanted to explore whether germline variants (SNPs) could predict the clinical outcomes of melanoma patients treated with ICIs. We performed a whole exome sequencing using gDNA isolated from blood, from a discovery cohort of 57 patients with metastatic melanoma. The top associations were then tested in a validation cohort of 57 patients. Our work suggests that individual germline genetic variants have no or weak impact on the response to ICIs. Only, variants in IL1RL1 have a significant impact in treatment response. The role of IL1RL1 in the immune response against melanoma and as a theranostic marker warrants further investigations.

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