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A loss-of-function polymorphism in ATG16L1 compromises therapeutic outcome in head and neck carcinoma patients

Julie Le Naour1,2,3, Zsofia Sztupinszki4,5,6, Vincent Carbonnier1,2,3

  • 1Equipe labellisée par la Ligue contre le cancer, Université de Paris, Sorbonne Université, INSERM U1138, Centre de Recherche des Cordeliers, Institut Universitaire de France, Paris, France.

Oncoimmunology
|April 28, 2022
PubMed

Insights

A specific genetic variation in the autophagy gene ATG16L1 is linked to worse outcomes for head and neck cancer patients treated with platinum. This finding may explain links between Crohn's disease and head and neck squamous cell carcinoma.

Area of Science:

  • Immunology
  • Oncology
  • Genetics

Background:

  • Anticancer immune responses are influenced by cell stress and death pathways.
  • Cancer cells release danger signals that activate immune cells like dendritic cells, initiating antitumor responses.
  • Genetic variations can impact this cancer-immunity dialogue.

Purpose of the Study:

  • To investigate the effect of single nucleotide polymorphisms (SNPs) in genes involved in the cancer-immunity interaction.
  • To analyze these effects in the context of head and neck squamous cell carcinoma (HNSCC).

Main Methods:

  • Genotyping analysis of SNPs in HNSCC patient cohorts.
  • Correlation of SNP genotypes with clinical outcomes, specifically progression-free survival in platinum-treated patients.
  • Validation of findings using independent patient cohorts, including The Cancer Genome Atlas (TCGA).

Main Results:

  • Homozygosity for a loss-of-function SNP (rs2241880) in the autophagy gene ATG16L1 was associated with poor progression-free survival in platinum-treated HNSCC patients.
  • This association was confirmed in both the Gustave Roussy and TCGA cohorts.
  • The rs2241880 SNP is known to predispose individuals to Crohn's disease.

Conclusions:

  • The ATG16L1 rs2241880 genotype may be a prognostic biomarker for HNSCC patients receiving platinum therapy.
  • This genetic factor could contribute to the observed epidemiological links between Crohn's disease and HNSCC incidence and prognosis.
Keywords:
FPR1Immunogenic cell deathP2RX7radiotherapytoll-like receptor

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