{"disease": {"name": "Small cell lung cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "sclc"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 2, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "DLL3", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 120, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["G156V (n=1)", "P432T (n=1)", "E586D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Small Cell Lung Cancer (U Cologne, Nature 2015), 16/120 patients (13.33%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sclc_ucologne_2015", "cohort_name": "Small Cell Lung Cancer (U Cologne, Nature 2015)", "altered": 16, "tested": 120, "frequency": 13.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "120/120", "coverage_note": null, "source_id": "sclc_ucologne_2015", "is_reference": true}, {"cohort": "sclc_jhu", "cohort_name": "Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012)", "altered": 2, "tested": 80, "frequency": 2.5, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "sclc_jhu", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.33, "width": 36.1, "reference": 44.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 120, "frequency": 13.33, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Small Cell Lung Cancer (U Cologne, Nature 2015)", "source": "cBioPortal", "accession": "sclc_ucologne_2015", "patients": {"value": 120, "status": "observed", "unit": "patients"}, "samples": {"value": 120, "status": "observed", "unit": "samples"}, "disease_subtype": "Small Cell Lung Cancer (U Cologne, Nature 2015)", "assay_type": "exome or genome", "sequencing_method": "WES (120)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "sclc_ucologne_2015", "is_demo": false, "assay_coverage": {"patients_with_calls": 120, "patients_in_roster": 120, "frequencies_computed": true, "samples_sequenced": 120, "samples_in_study": 120, "hypermutated_patients": 0, "median_mutations_per_sample": 220.0, "reason": null}}, {"name": "Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012)", "source": "cBioPortal", "accession": "sclc_jhu", "patients": {"value": 80, "status": "observed", "unit": "patients"}, "samples": {"value": 80, "status": "observed", "unit": "samples"}, "disease_subtype": "Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012)", "assay_type": "exome or genome", "sequencing_method": "WES (80)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "sclc_jhu", "is_demo": false, "assay_coverage": {"patients_with_calls": 80, "patients_in_roster": 80, "frequencies_computed": true, "samples_sequenced": 80, "samples_in_study": 80, "hypermutated_patients": 1, "median_mutations_per_sample": 38.5, "reason": null}}], "sources": [{"source_name": "cBioPortal · Small Cell Lung Cancer (U Cologne, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=sclc_ucologne_2015", "source_record_id": "sclc_ucologne_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=sclc_jhu", "source_record_id": "sclc_jhu", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Small Cell Lung Cancer (U Cologne, Nature 2015) (120 sequenced patients, exome or genome), the most frequently altered of the 50 genes shown are TP53 84.17%, RB1 69.17%, NAV3 27.5%, PCDH15 26.67%, EYS 22.5%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 7 are altered in under 2% of this cohort (MYC, MYCL, ASCL1, POU2F3, YAP1, BCL2, CD274): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 101 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).", "numerator": 101, "denominator": 120, "frequency": 84.17, "cohorts": 2, "evidence_confidence": "moderate", "source": "sclc_ucologne_2015", "retrieved_at": "2026-09-18"}, {"finding": "RB1 is mutated in 83 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).", "numerator": 83, "denominator": 120, "frequency": 69.17, "cohorts": 2, "evidence_confidence": "moderate", "source": "sclc_ucologne_2015", "retrieved_at": "2026-09-18"}, {"finding": "NAV3 is mutated in 33 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).", "numerator": 33, "denominator": 120, "frequency": 27.5, "cohorts": 2, "evidence_confidence": "moderate", "source": "sclc_ucologne_2015", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "sclc_ucologne_2015", "region_events": [], "matrix": [{"label": "DLL3", "kind": "SNV / small indel", "gene": "DLL3", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 2.5, "altered": 3, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 84.17, "altered": 101, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 45.0, "altered": 36, "tested": 80, "note": null}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 69.17, "altered": 83, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 23.75, "altered": 19, "tested": 80, "note": null}]}, {"label": "MYC", "kind": "SNV / small indel", "gene": "MYC", "cells": [{"cohort": "sclc_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "MYCL", "kind": "SNV / small indel", "gene": "MYCL", "cells": [{"cohort": "sclc_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "ASCL1", "kind": "SNV / small indel", "gene": "ASCL1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 0.83, "altered": 1, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "NEUROD1", "kind": "SNV / small indel", "gene": "NEUROD1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 3.33, "altered": 4, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}]}, {"label": "POU2F3", "kind": "SNV / small indel", "gene": "POU2F3", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 1.67, "altered": 2, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "YAP1", "kind": "SNV / small indel", "gene": "YAP1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "SLFN11", "kind": "SNV / small indel", "gene": "SLFN11", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 5.83, "altered": 7, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 1.25, "altered": 1, "tested": 80, "note": null}]}, {"label": "BCL2", "kind": "SNV / small indel", "gene": "BCL2", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 0.83, "altered": 1, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 0.83, "altered": 1, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "NAV3", "kind": "SNV / small indel", "gene": "NAV3", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 27.5, "altered": 33, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 8.75, "altered": 7, "tested": 80, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 26.67, "altered": 32, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 1.25, "altered": 1, "tested": 80, "note": null}]}, {"label": "EYS", "kind": "SNV / small indel", "gene": "EYS", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 22.5, "altered": 27, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 6.25, "altered": 5, "tested": 80, "note": null}]}, {"label": "FAM135B", "kind": "SNV / small indel", "gene": "FAM135B", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 21.67, "altered": 26, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 8.75, "altered": 7, "tested": 80, "note": null}]}, {"label": "FSIP2", "kind": "SNV / small indel", "gene": "FSIP2", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 20.83, "altered": 25, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 8.75, "altered": 7, "tested": 80, "note": null}]}, {"label": "ANKRD30B", "kind": "SNV / small indel", "gene": "ANKRD30B", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 20.83, "altered": 25, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}]}, {"label": "TMEM132D", "kind": "SNV / small indel", "gene": "TMEM132D", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 20.0, "altered": 24, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 6.25, "altered": 5, "tested": 80, "note": null}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 20.0, "altered": 24, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 7.5, "altered": 6, "tested": 80, "note": null}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 20.0, "altered": 24, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 8.75, "altered": 7, "tested": 80, "note": null}]}, {"label": "ERICH3", "kind": "SNV / small indel", "gene": "ERICH3", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 19.17, "altered": 23, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 8.75, "altered": 7, "tested": 80, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 18.33, "altered": 22, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": null}]}, {"label": "ADGB", "kind": "SNV / small indel", "gene": "ADGB", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 18.33, "altered": 22, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 6.25, "altered": 5, "tested": 80, "note": null}]}, {"label": "TNR", "kind": "SNV / small indel", "gene": "TNR", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 17.5, "altered": 21, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 1.25, "altered": 1, "tested": 80, "note": null}]}, {"label": "NCAM2", "kind": "SNV / small indel", "gene": "NCAM2", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 17.5, "altered": 21, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 5.0, "altered": 4, "tested": 80, "note": null}]}, {"label": "HCN1", "kind": "SNV / small indel", "gene": "HCN1", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 17.5, "altered": 21, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 13.75, "altered": 11, "tested": 80, "note": null}]}, {"label": "SPHKAP", "kind": "SNV / small indel", "gene": "SPHKAP", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 16.67, "altered": 20, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 6.25, "altered": 5, "tested": 80, "note": null}]}, {"label": "FMN2", "kind": "SNV / small indel", "gene": "FMN2", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 16.67, "altered": 20, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 5.0, "altered": 4, "tested": 80, "note": null}]}, {"label": "PRDM9", "kind": "SNV / small indel", "gene": "PRDM9", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 15.83, "altered": 19, "tested": 120, "note": null}, {"cohort": "sclc_jhu", "status": "observed", "frequency": 7.5, "altered": 6, "tested": 80, "note": null}]}, {"label": "CRACD", "kind": "SNV / small indel", "gene": "CRACD", "cells": [{"cohort": "sclc_ucologne_2015", "status": "observed", "frequency": 15.83, "altered": 19, 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