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◇ bioRxiv2026-09-08· cancer biology

The Indian Cancer Genome Atlas:A Multi-Omics Resource for Advancing Cancer Research

S. Dhup, A. Singh

原始摘要(英文原文)· Original abstract
Breast cancer genomics remains disproportionately shaped by cohorts of European and East Asian ancestry, leaving South Asian populations- nearly one-fifth of the world's people- underrepresented despite a distinct clinical presentation: earlier age at onset, later stage at diagnosis, and poorer stage-specific survival relative to Western cohorts. Here we present an integrated multi-omic resource generated from the same 125 patient Indian breast cancer cohort, comprising whole-genome somatic variant calls, paired tumor normal RNA sequencing batches, and quantitative shotgun proteomics, together with clinical annotation spanning age range, menopausal status, tumor laterality, family history, receptor (ER/PR/HER2) status, and recurrence/progression outcome. Somatic profiling recovered canonical breast cancer drivers (TP53, 36%; PIK3CA, 22%; GATA3, 8%; ARID1A, 5%) alongside a set of recurrently altered genes dominated by exceptionally large genes (MUC4, TTN, OBSCN, USH2A), a recognized signature of length-driven passenger-mutation recurrence. Cross-referencing recurrent protein-level alterations against the OncoKB knowledge base identified PIK3CA/AKT1 pathway hotspot mutations, most frequently PIK3CA H1047R, in one-fifth of patients (25/125). Transcriptomic analysis cleanly separated tumors from normal tissue along the first principal component and supported a curated immune gene panel capable of stratifying tumors by immune-associated expression pattern. We provide this dataset as a resource for driver and actionability benchmarking, cross-platform (DNA-RNA-Protein) concordance analysis, tumor-immune stratification, and methodological work on length-normalized driver detection in an Indian-ancestry context that remains largely absent from reference cancer genomics datasets.
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