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Article

Landscape and functional impact of variants of unknown significance of immune response genes in human cancer.

Cancer gene therapy - 1 Apr 2026

Diaz Cristina A, Morillas Juan M, Navajas-Chocarro Pablo, Provenzano Valentina, Setien Fernando, Esteller Manel, Sanchez-Cespedes Montse

Abstract excerpt

Immune checkpoint blockade (ICB) is a standard treatment for several types of human cancer, yet we still lack a deep understanding of the mechanisms underlying primary resistance. Tumor-intrinsic defects in immune recognition and interferon-gamma (IFNγ) signaling pathways facilitate immune evasion and may limit the efficacy of ICB. Here, we delineate the mutational landscape and functional consequences of amino...

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Topics

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Share to Cell Line, Tumor
Share to IFNGR1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Janus Kinase 2

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Share to Mutation, Missense

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Source

Identifiers

PMID: 41935225
DOI: 10.1038/s41417-026-01024-9

Genes

B2M
IFNGR1
JAK2
IFNGR2
CALR
JAK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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