Supplementary Tables S1-S16 from Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes

Le résumé fourni par la source

Supplementary Tables Supplementary Table S1. Clinical and Tumoral Data from CCHD-PPGL patients. Supplementary Table S2. Selection inference in the PPGL (TCGA, non-CCHD) and CCHD-PPGL cohort. Supplementary Table S3. Cancer Cell Fraction of EPAS1 mutations in CCHD-PPGL and PPGL patients. Supplementary Table S4. Clonal Clustering of CCHD-PPGL tumor mutations, highlighting EPAS1 mutation, using Conipher. Supplementary Table S5. Clonal Clustering of PPGL tumor mutations (TCGA), highlighting EPAS1 mutation, using Conipher. Supplementary Table S6. Parallelism of EPAS1 genetic variant selection in high-altitude populations and human tumors. Supplementary Table S7. EPAS1 Frequencies of Denisovan AGGAA haplotype from 4,000 Han Chinese Population (https://www.biosino.org/pgghan2/index) compared with gnomAD cohort around the world. Supplementary Table S8. Genetic Instability Characteristics (MSI, CNA, TMB) from CCHD-PPGL and PPGL (TCGA) tumors. Supplementary Table S9. Data of 354 differentially expressed mitochondrial genes (from Human Mitocarta Database) between EPAS1MUT and EPAS1WT samples in patients with PPGL (TCGA). Supplementary Table S10. Gene expression profiling analysis from patients with hemoglobin disorders and 52 paragangliomas with various genotypes including 19 EPAS1 (including one tumor in duplicate), 6 SDHx, 2 SLC25A11, 6 VHL, 3 RET, 3 NF1, 1 MAX, 1 MAML3 and 11 unmutated paragangliomas (Mancini M et al. Br J Haematol, 2023). Supplementary Table S11. RNAseq Raw Counts from PC12 Cell line cultured under normoxia/hypoxia conditions. Supplementary Table S12. Tumor type and hypoxia onset in patients with CCHD-PPGL. Supplementary Table S13. O2 Saturation in CCHD patients with or without PPGL tumors. Supplementary Table S14. Heart surgery influence in tumor development in patients with CCHD-PPGL. Supplementary Table S15. Clinical features of tumors developed under hypoxia (CCHD-PPGL) and normoxia (non-CCHD-PPGL). Supplementary Table S16. Representation of clinical variables in patients with PPGL and CCHD-PPGL.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.