Poster Presentation 38th Lorne Cancer Conference 2026

A blueprint for mutation-defined hallmark vulnerabilities across human cancers (#146)

Ran Xu 1 2 , Rebecca San Gil 3 4 , Derek Tran 1 , Chun Xu 2 4 , Justin J-L Wong 3 4 , Lenka Munoz 3 4 , Yuchen Feng 3 4
  1. Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, Australia
  2. Sydney Dental School, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, Australia
  3. School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, Australia
  4. Charles Perkins Centre, The University of Sydney, Camperdown, NSW, Australia

Hallmark gene mutations shape cancer cell vulnerabilities and inform drug discovery. A systematic map of hallmark gene mutation-defined cancer dependencies and therapeutic responses is essential to uncover novel targets and refine therapeutic strategies. Here, we present the first pan-cancer blueprint of hallmark vulnerabilities, systematically linking hallmark gene mutation markers to cancer cell dependencies and drug sensitivities across more than 20 cancer cohorts. We integrated multi-omics data from patient tumours with large-scale CRISPR-Cas9 screens and pharmacologic profiling of over a thousand cancer cell lines. Our analysis revealed the cancer type-specific nature of hallmark gene expression programs and uncovered previously unrecognised mutation marker-target gene dependencies, as well as functional vulnerabilities with metabolic programs emerging as a dominant class. Notably, we identified oxidative phosphorylation (OXPHOS) addiction in CDKN2A-loss lung squamous cell carcinoma (LUSC) and experimentally validated this dependency. Our validation highlights the greater selectivity of CDKN2A-loss LUSC cells to metformin, an FDA-approved antidiabetic drug known for its OXPHOS inhibitory activity. Proteogenomic integration further prioritised targets overexpressed in marker-mutant tumours relative to normal tissues, constituting therapeutic windows, and identified those differentially expressed between mutant and wild-type tumours, representing mutation-driven dependencies. Furthermore, pharmacologic profiling identified both oncology and non-oncology agents with selective activity in mutation-defined subgroups, revealing opportunities for drug repurposing. Leveraging our machine learning framework, Comet-X, we advanced our findings by identifying combinatorial mutation markers predictive of target dependencies and drug responses. This pan-cancer mutation-dependency map provides a comprehensive resource of hallmark gene targets and candidate therapeutics stratified by mutation markers, paving the way for drug development, clinical trial design and discovery research.