The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers

Hallmarks of Cancer: The Next Generation

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The hallmarks of cancer

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Cancer Genome Landscapes

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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

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Inhibition of Mutated, Activated BRAF in Metastatic Melanoma

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Processing of primary microRNAs by the Microprocessor complex

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Wnt signaling in cancer

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The mutational landscape of lethal castration-resistant prostate cancer

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Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells

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Learning to estimate sample-specific transcriptional networks for 7,000 tumors

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Cancer gene identification from RNA variant allelic frequencies using RVdriver

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Loss of Integrase Interactor 1 (INI1) Expression in a Subset of Differentiated Thyroid Cancer

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An integrated deep learning and dynamic programming method for predicting tumor suppressor genes, oncogenes, and fusion from PDB structures

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Assembling Disease Networks From Causal Interaction Resources

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Prediction of Disease Genes Based on Stage-Specific Gene Regulatory Networks in Breast Cancer

Fan, L., Hou, J., & Qin, G. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.717557 · Cited by 6

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients

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Super-Resolution Microscopy Reveals That Stromal Interaction Molecule 1 Trafficking Depends on Microtubule Dynamics

Huang, Y.-T., Hsu, Y., Chen, Y., & Shen, M.-R. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.762387 · Cited by 6

m6Aexpress-Reader: Prediction of m6A regulated expression genes by integrating m6A sites and reader binding information in specific- context

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A new long-read dog assembly uncovers thousands of exons and functional elements missing in the previous referencePreprint

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Genetic variants for head size share genes and pathways with cancerPreprint

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Identification of novel mutational signatures in Asian oral squamous cell carcinomas associated with bacterial infectionsPreprint

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Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individualsPreprint

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HiChIP-Based Epigenomic Footprinting Identifies a Promoter Variant of UXS1 That Confers Genetic Susceptibility to Gastroesophageal Cancer

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EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform

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Pan-Cancer Upregulation of the FOXM1 Transcription Factor

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Global profiling of alternative splicing in non-small cell lung cancer reveals novel histological and population differences

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Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men

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Establishment and characterization of 24 breast cancer cell lines and 3 breast cancer organoids reveals molecular heterogeneity and drug response variability in malignant pleural effusion-derived models

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Recombinant Adeno-Associated Virus Integration Profiles in Nonhuman Primates and Gene Therapy Participants after Treatment with Valoctocogene Roxaparvovec

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Intraline genomic heterogeneity of the triple-negative breast cancer MDA-MB-231-luc-GFP cell line

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Passenger mutations link cellular origin and transcriptional identity in human lung adenocarcinomas

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Temporal trends in evidence supporting novel drug target discovery

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Integrative Multiomics and Drug Sensitivity Profiling Reveal Potential Biomarkers and Therapeutic Strategies in Pediatric Solid Tumors

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FOCAS: Transcriptome-wide screening of individual m6A sites functionally dissects epitranscriptomic control of gene expression in cancer

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Genome-wide detection of human 5′ UTR variants that impact protein translation

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DIOPT: the DRSC Integrative Ortholog Prediction Tool, 2026 update

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A computational approach to generate highly conserved gene co-expression networks with RNA-seq data

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Insight from sirtuins interactome: topological prominence and multifaceted roles of SIRT1 in modulating immunity, aging and cancer

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The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders

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iPS cell generation-associated point mutations include many C > T substitutions via different cytosine modification mechanisms

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Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma

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Transcriptome analysis of cynomolgus macaques throughout their lifespan reveals age-related immune patterns

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CIBRA identifies genomic alterations with a system-wide impact on tumor biology

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Enhancing disease risk gene discovery by integrating transcription factor-linked trans -variants into transcriptome-wide association analyses

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Targeted Variant Assessments of Human Endogenous Retroviral Regions in Whole Genome Sequencing Data Reveal Retroviral Variants Associated with Papillary Thyroid Cancer

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Cancer Relevance of Human Genes

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SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer

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Multivariate Bayesian structured variable selection for pharmacogenomic studies

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DRdriver: identifying drug resistance driver genes using individual-specific gene regulatory network

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The Clinical Significance of Genetic Variation in Ovarian Cancer

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Actionable loss of SLF2 drives B‐cell lymphomagenesis and impairs the DNA damage response

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Gene essentiality in cancer is better predicted by mRNA abundance than by gene regulatory network-inferred activity

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The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific Mutations

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Long Intergenic Non-Coding RNAs of Human Chromosome 18: Focus on Cancers

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Childhood cancer mutagenesis caused by transposase-derived PGBD5

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Patient-derived organoid elucidates the identical clonal origin of bilateral breast cancer with diverse molecular subtypes

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Germline susceptibility from broad genomic profiling of pediatric brain cancers

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Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients

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Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined

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Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1 ‐Associated Genes in Finnish Patients with Uveal Melanoma

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InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports

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Unveiling potential anticancer drugs through in silico drug repurposing approaches

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The FABRIC Cancer Portal: A Ranked Catalogue of Gene Selection in Tumors Over the Human Coding Genome

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Improved risk stratification in youngerIDHwild-type glioblastoma patients by combining a 4-miRNA signature withMGMTpromoter methylation status

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Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma

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Differential chromatin accessibility landscape of gain-of-function mutant p53 tumours

Dhaka, B., & Sabarinathan, R. (2021) · BMC Cancer · doi:10.1186/s12885-021-08362-x · Cited by 5

Predicting pathogenic non-coding SVs disrupting the 3D genome in 1646 whole cancer genomes using multiple instance learning

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An Unbiased Functional Genetics Screen Identifies Rare Activating ERBB4 Mutations

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Prostanoid Signaling in Cancers: Expression and Regulation Patterns of Enzymes and Receptors

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Copy number alterations and epithelial‑mesenchymal transition genes in diffuse and intestinal gastric cancers in Mexican patients

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Brain somatic mutations as RNA therapeutic targets in neurological disorders

Lee, S., & Lee, J. H. (2022) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14786 · Cited by 5

A genetic map of the chromatin regulators to drug response in cancer cells

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Accurate Prediction of Cancer Prognosis by Exploiting Patient-Specific Cancer Driver Genes

Lee, S., Jung, H., Park, J., & Ahn, J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24076445 · Cited by 5

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC

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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

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Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes

Song, S., Koh, Y., Kim, S., Lee, S. M., Kim, H. U., Ko, J. M., Lee, S., Yoon, S., & Park, S. (2023) · Genome Medicine · doi:10.1186/s13073-023-01252-w · Cited by 5

Supervised prediction of aging-related genes from a context-specific protein interaction subnetwork

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Mutation hotspots may not be drug targets

Carter, H. K. (2019) · Science · doi:10.1126/science.aax9108 · Cited by 5

Fully-automated and ultra-fast cell-type identification using specific marker combinations from single-cell transcriptomic dataPreprint

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Principal Component Analysis of RNA-seq Data Unveils a Novel Prostate Cancer-Associated Gene Expression SignaturePreprint

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Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genesPreprint

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Variability of mutational signatures is a footprint of carcinogensPreprint

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Predicting NSCLC surgical outcomes using deep learning on histopathological images: development and multi-omics validation of Sr-PPS model

Peng, S., Jia, K., Peng, M., Chen, Y., Lin, A., Luo, P., Wang, J., Wang, Y., & Bai, Y. (2025) · International Journal of Surgery · doi:10.1097/js9.0000000000002526 · Cited by 4

Low-amplitude copy number gains shape cancer through known and novel oncogenes with associated therapeutic vulnerabilities

Eleveld, T. F., Ylstra, B., & Looijenga, L. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf689 · Cited by 4

Genomic and immunogenomic profiling of extramedullary acute myeloid leukemia reveals actionable clonal branching and frequent immune editing

Collignon, C., Hansen, T. H., Hercus, C., Ruzinova, M. B., Guépin, G. R., Bonmati, C., Rubio, M., Feugier, P., Gaudfrin, M., Sartelet, H., et al. (2025) · Blood Cancer Journal · doi:10.1038/s41408-025-01345-2 · Cited by 4

Isolated oral CD30+/CD4+ CAR+ T cell lymphoma in long-term remission after radiotherapy

Bezerra, E. D., Lupu, L., de Lima, M., Pfaller, L., Neal, A., Hajizadeh, N. R., Zhao, Q., Beibel, M., Chung, C. T. ‐., Lemmens, M., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.08.043 · Cited by 4

Emerging strategies in corneal Regeneration: The role of induced pluripotent stem cell-based therapies

Zhang, H., del Barrio, J. L. A., Miguel, M. P. D., & Alió, J. L. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110631 · Cited by 4

Integrated multi-optosis model for pan-cancer candidate biomarker and therapy target discovery

de Souza, E. R., Nogueira, H. A. C., Francisco, R. D. S., Garcia, A. B., & Medina‐Acosta, E. (2025) · Frontiers in Bioinformatics · doi:10.3389/fbinf.2025.1630518 · Cited by 5

Integrated pathway analysis identifies prognostically relevant subtypes of glioblastoma characterized by abnormalities in multi‐omics

Zhang, P., Liu, D., Yu, T., Zhang, Y., Zhong, L. X., Ouyang, X., Qin, X., & Dong, L. (2025) · Clinical and Translational Medicine · doi:10.1002/ctm2.70517 · Cited by 4

Chromatin landscape and epigenetic heterogeneity of acute myeloid leukaemia

Ochi, Y., Liew-Littorin, M., Nannya, Y., Bengtzén, S., Piauger, B., Deneberg, S., Jädersten, M., Lazarević, V., Cammenga, J., Robelius, A., et al. (2026) · Nature · doi:10.1038/s41586-026-10703-4 · Cited by 5

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes

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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes

Urzúa-Traslaviña, C. G., van Lieshout, T., Boulogne, F., Domanegg, K., Zidan, M., Bakker, O. B., Claringbould, A., de Ridder, J., Zwart, W. T., Westra, H.-J., et al. (2024) · BMC Medical Genomics · doi:10.1186/s12920-024-01941-4 · Cited by 4

Genome-wide association studies are enriched for interacting genes

Nguyen, P., Coetzee, S. G., Silacheva, I., & Hazelett, D. J. (2025) · BioData Mining · doi:10.1186/s13040-024-00421-w · Cited by 4

HCNetlas: A reference database of human cell type-specific gene networks to aid disease genetic analyses

Yu, J., Cha, J., Koh, G., & Lee, I. (2025) · PLoS Biology · doi:10.1371/journal.pbio.3002702 · Cited by 7

CLCluster: A redundancy-reduction contrastive learning-based clustering method of cancer subtype based on multi-omics data

Wang, H., Zhang, Y., Li, W., Wei, Z., Wang, Z., & Yang, M. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102534 · Cited by 4

Transcriptome-wide association study of alternative polyadenylation identifies susceptibility genes in non-small cell lung cancer

Xu, X., Wang, S., Zhou, H., Tan, Q., Lang, Z., Zhu, Y., Yuan, H. S., Wu, Z., Zhu, L., Hu, K., et al. (2025) · Oncogene · doi:10.1038/s41388-025-03338-8 · Cited by 4

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma

Huang, C., Chao, A., Lin, C., Rozen, S., Chao, A.-S., Chang, C.-B., Tung, H., Wu, R., & Lai, C. (2025) · BMC Cancer · doi:10.1186/s12885-025-15053-4 · Cited by 4

Using single-cell perturbation screens to decode the regulatory architecture of splicing factor programs

Anglada-Girotto, M., Miravet‐Verde, S., & Serrano, L. G. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf855 · Cited by 4

Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention

Li, Q., Song, Q., Chen, Z., Choi, J.-Y., Moreno, V. R., Ping, J., Wen, W., Li, C., Shu, X., Yan, J., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.11.008 · Cited by 4

High-Throughput Molecular Cancer Cell Line Characterization Using Digital Multiplex Ligation-Dependent Probe Amplification for Improved Standardization of in Vitro Research

Menezes, K., Atanesyan, L., Sherborne, A. L., Steenkamer, M., Clemens, I., Savola, S. P., & Kaiser, M. (2020) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2020.06.007 · Cited by 4

El cáncer de pulmón de células no pequeñas en la era de la medicina de precisión

Rivas, S., & Armisén, R. (2022) · Revista Médica Clínica Las Condes · doi:10.1016/j.rmclc.2022.01.001 · Cited by 4

Dynamic cancer drivers: a causal approach for cancer driver discovery based on bio-pathological trajectories

Bernal, A. M. C., Pham, V., Li, X., Liu, L., Li, J., & Le, T. D. (2022) · Briefings in Functional Genomics · doi:10.1093/bfgp/elac030 · Cited by 4

Wild animals as an underused treasure trove for studying the genetics of cancer

Sepp, T., & Giraudeau, M. (2022) · BioEssays · doi:10.1002/bies.202200188 · Cited by 6

MSIMEP: Predicting microsatellite instability from microarray DNA methylation tumor profiles

Santamarina, M., Iglesias, J. B., Bramsen, J. B., Fuentes-Losada, M., Caneiro-Gómez, F. J., Vázquez-Bueno, J. Á., Lázare‐Iglesias, H., Fernández-Díaz, N., Sánchez-Rivadulla, L., Betancor, Y. Z., et al. (2023) · iScience · doi:10.1016/j.isci.2023.106127 · Cited by 4

Multi-View Kernel Learning for Identification of Disease Genes

Shah, E. J., & Maji, P. (2023) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2023.3247033 · Cited by 4

Systematic Integration of Protein Affecting Mutations, Gene Fusions, and Copy Number Alterations Into a Comprehensive Somatic Mutational Profile

Striker, S. S., Wilferd, S. F., Lewis, E. M., O’Connor, S. A., & Plaisier, C. L. (2022) · Cell Reports Methods · doi:10.1016/j.crmeth.2023.100442 · Cited by 4

Tagmentation-based analysis reveals the clonal behavior of CAR-T cells in association with lentivector integration sites

Kim, J., Park, M., Baek, G. W., Kim, J.-I., Kwon, E., Kang, B., Kim, J., & Kang, H. J. (2023) · Molecular Therapy — Oncolytics · doi:10.1016/j.omto.2023.05.004 · Cited by 5

Hotspot propensity across mutational processes

Arnedo-Pac, C., Muiños, F., González-Pérez, A., & López-Bigas, N. (2023) · Molecular Systems Biology · doi:10.1038/s44320-023-00001-w · Cited by 6

Abstract 2469: The COSMIC Cancer Gene Census - a comprehensive study of all mutated cancer-driving genes

Sońdka, Z., Speedy, H. E., Bamford, S., Cole, C. G., Ward, S. A., & Forbes, S. A. (2019) · Cancer Research · doi:10.1158/1538-7445.am2019-2469 · Cited by 1

Abstract 2599: COSMIC Cancer Gene Census: expert descriptions across genes in oncogenesis

Sońdka, Z., Bamford, S., Cole, C. G., Dawson, E., Ponting, L., Stefancsik, R., Ward, S. A., Tate, J. G., Campbell, P. J., & Forbes, S. A. (2017) · Cancer Research · doi:10.1158/1538-7445.am2017-2599

COSMIC: the Catalogue Of Somatic Mutations In Cancer

Tate, J. G., Bamford, S., Jubb, H. C., Sondka, Z., Beare, D. M., Bindal, N., Boutselakis, H., Cole, C. G., Creatore, C., Dawson, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1015 · Cited by 4,867

Abstract 5285: COSMIC: comprehensively exploring oncogenomics

Forbes, S. A., Bindal, N., Beare, D. M., Bamford, S., Cole, C. G., Ward, S. A., Leung, K., Kok, C. Y., Jia, M., De, T., et al. (2016) · Cancer Research · doi:10.1158/1538-7445.am2016-5285 · Cited by 1

The Network of Cancer Genes (NCG): a comprehensive catalogue of known and candidate cancer genes from cancer sequencing screensPreprint

Repana, D., Nulsen, J., Dreßler, L., Bortolomeazzi, M., Venkata, S. K., Tourna, A., Yakovleva, A., Palmieri, T., & Ciccarelli, F. D. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/389858 · Cited by 38