Targeted Gene Sequencing for Head and Neck Cancer Candidate Genes in the Nepal case-control study

In a Nepal hospital-based case-control study of 315 head and neck cancer cases and 323 controls, targeted sequencing of 493 candidate genes detected clinically relevant pathogenic variants but found no significant enrichment between groups.

• Why it matters: Genetic predisposition for head and neck cancer is poorly characterized in underrepresented populations, limiting risk assessment where incidence and mortality are high.
• What they did: At B.P. Koirala Memorial Cancer Hospital, investigators collected interview-based epidemiologic data and performed targeted gene sequencing of 493 candidate HNC risk genes, then ran gene- and pathway-based association tests with multiple-testing adjustment.
• The result: Gene-based analyses showed suggestive associations for HSPG2, KRT6B, SLC4A2, and FREM1 before adjustment, while no pathways stayed significant; rare pathogenic and likely pathogenic variants in APC, BAP1, BRCA1, BRCA2, RAD51B, and MUTYH were clinically annotated.

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