# Foundation-model-guided radiogenomic discovery linking cancer genomes to cancer scans

arXiv: https://arxiv.org/abs/2607.20583 · HTML: https://mlsanity.com/paper/2607.20583/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 3 of its 25 references that are in the map.
- First posted on arXiv 22 Jul 2026.

## Builds on (most cited first, 3 of 3)

- [TotalSegmentator: robust segmentation of 104 anatomical structures in CT images](https://mlsanity.com/paper/2208.05868/) (2022)
- [The KiTS21 Challenge: Automatic segmentation of kidneys, renal tumors, and renal cysts in corticomedullary-phase CT](https://mlsanity.com/paper/2307.01984/) (2023)
- [A large-scale multicenter breast cancer DCE-MRI benchmark dataset with expert segmentations](https://mlsanity.com/paper/2406.13844/) (2024)

## Abstract (arXiv)

The function of many genes is still unknown, and conventional driver-discovery methods, which rely on how frequently a gene is mutated, cannot assess genes that are only rarely affected. Here we pair Evo~2-based genome analysis with routine clinical imaging to identify gene--phenotype associations at genome-wide scale. For every somatic mutation across three TCGA cohorts (cRCC=clear cell renal cell carcinoma, HCC=hepatocellular carcinoma, and BC=breast cancer; n = 340 total), Evo~2 predicts a severity score, with no task-specific training. Per-gene severity summaries are then correlated with radiomic features extracted from paired tumor segmentations, controlling for total mutation burden. In TCGA-cRCC (n = 162), this sweep recovers established renal-cancer drivers and identifies 46 additional genes reaching false discovery rate (FDR) significance absent from curated cancer-gene panels, several of which are Mendelian ciliopathy and cytoskeletal-disease genes. These results demonstrate that pairing a genomic language model with widely available clinical imaging can serve as a hypothesis-free discovery tool for gene--imaging associations invisible to conventional approaches.