Q (sonnet): are lung carcinosarcomas associated with BRIP1 mutations? ▶ list_guides {} ▶ search_oncotree { "search_term": "carcinosarcoma lung" } ◀ result {"result":[{"uri":"cbioportal://mutation-frequency-guide","description":"Comprehensive guide for calculating gene mutation frequencies with gene-specific profiling denominators"},{"uri":"cbioportal://clinical-data-guide","description":"Guide for querying clinical data including patient vs sample level considerations"},{"uri":"cbioportal://sample-filtering-guide","description":"Guide for filtering samples and studies in cBioPortal queries"},{"uri":"cbioportal://common-pitfalls","description":"Guide to avoid common mistakes when querying cBioPortal data. If you already know which numbered pitfall applies, fetch just that section via read_guide(\"cbioportal://common-pitfalls#\") (e.g. #16) instead of the full guide"},{"uri":"cbioportal://treatment-guide","description":"Guide for querying treatment/clinical event data including drug agents, timelines, and linking to genomic data"},{"uri":"cbioportal://faq-guide","description":"General cBioPortal FAQ: history, how to cite, data types, reference genome, abbreviations, GISTIC thresholds, API access"},{"uri":"cbioportal://statistical-tests-guide","description":"Statistical test selection guide — decision matrix for choosing Fisher's exact, Wilcoxon, chi-squared, t-test, ANOVA, etc. based on data type and group count"},{"uri":"cbioportal://gene-expression-guide","description":"Gene expression / copy-number / methylation analysis. Covers genetic_alteration_derived, profile_type discovery, and the gene_pair_coexpression view for Spearman correlation between two genes"},{"uri":"cbioportal://external-resources-guide","description":"Guide for finding external linked resources such as imaging, pathology, Minerva, HTAN, or other resource_* table links before declaring data unavailable"},{"uri":"cbioportal://gene-resolution-guide","description":"Guide for resolving ambiguous gene symbols, aliases, gene families, and shorthand such as CD3 before querying expression or alteration data"},{"uri":"cbioportal://study-resolution-guide","description":"Guide for resolving requested studies, avoiding silent substitute cohorts, and redirecting to known external cBioPortal instances when data is not in this deployment"},{"uri":"cbioportal://germline-guide","description":"Guide for querying germline variant data — storage columns, study discovery, query patterns, and somatic vs germline considerations"},{"uri":"cbioportal://study-guide/{study_id}","description":"Dynamic study-specific guide - use get_study_guide(study_id) tool to generate"}]} ◀ result {"result":[]} ▶ search_oncotree { "search_term": "carcinosarcoma" } ▶ read_guide { "uri": "cbioportal://mutation-frequency-guide" } ◀ result {"result":[{"code":"CSNOS","name":"Breast Invasive Carcinosarcoma, NOS","score":50,"mainType":"Breast Cancer","tissue":"Breast","hierarchy":"BREAST > BRCA > CSNOS"},{"code":"MCS","name":"Metaplastic Carcinosarcoma","score":50,"mainType":"Breast Cancer","tissue":"Breast","hierarchy":"BREAST > MBC > MMBC > MCS"},{"code":"OCS","name":"Ovarian Carcinosarcoma/Malignant Mixed Mesodermal Tumor","score":50,"mainType":"Ovarian Cancer","tissue":"Ovary/Fallopian Tube","hierarchy":"OVARY > OVT > OCS"},{"code":"UCS","name":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","score":50,"mainType":"Endometrial Cancer","tissue":"Uterus","hierarchy":"UTERUS > UCEC > UCS"}]} ◀ result # Mutation Frequency Analysis Guide ## IMPORTANT: Reporting Mutation Frequencies - **ALWAYS report frequencies as percentages**, not raw counts: `frequency = (altered_samples / total_profiled_samples) × 100` - For quick frequency lookups, **prefer the TCGA Pan-Cancer Atlas study first**, then offer to expand to other studies - When reporting across multiple studies, show **ranges** (e.g., "TP53 is mutated in 30–60% of samples") rather than a single average - **NEVER** sum mutation events across studies to compute an aggregate frequency — this can exceed 100% due to double-counting - Warn users that samples may overlap across cohorts (e.g., MSK studies may share patients) - **Choose and state the counting unit**: use patient-level frequencies for prevalence/rate questions unless the user explicitly asks for samples; use sample-level frequencies when the user asks about samples. - **For "across cancer types" questions**, jump to the [Cross-Cancer-Type Mutation Frequency](#cross-cancer-type-mutation-frequency) section below — there is one correct recipe and several common wrong ones. ## Counting Unit: Samples vs Patients Before answering any mutation count or frequency question, decide whether the unit is samples or patients and state that choice in the answer. | User wording | Counting unit | |--------------|---------------| | "prevalence", "rate", "fraction of patients", "patients with", "how common is" | Patient-level: `COUNT(DISTINCT patient_unique_id)` | | "samples", "specimens", "biopsies", sample-level cohort composition | Sample-level: `COUNT(DISTINCT sample_unique_id)` | | Ambiguous | Ask, or default to patient-level for prevalence/rate language and say so | ### Cross-study sample-count caveat When an answer touches more than one study and reports a sample count, prepend a one-line caveat: > Sample IDs are unique within cBioPortal study prefixes, not guaranteed biological-sample identifiers across studies; overlapping cohorts can count the same patient/sample more than once. Prefer one of these safer approaches: - Use a shipped `cancer_study_query_preferences` cohort such as `pan_cancer_tcga` or `all_studies_non_redundant`. - Restrict to one named study. - Aggregate by `patient_unique_id` when the biological question is patient prevalence. ## STOP rule: a frequency above 100% means your query is wrong If your query returns a frequency over 100%, **do not try to debug or explain the data inconsistency to the user**. The cause is always one of these query bugs: - Summing mutation events instead of `COUNT(DISTINCT sample_unique_id)` for the numerator - Using a study-wide sample count as the denominator instead of the gene-specific profiled count - Cross-study aggregation where the same biological sample appears under multiple `sample_unique_id` values (e.g., MSK-IMPACT and MSK-CHORD share patients) - **Joining the profiled CTE through `gene_panel` / `gene_panel_list` without a WES branch.** `gene_panel_id = 'WES'` is *not* a row in … (35166 more chars) ▶ clickhouse_run_select_query { "query": " SELECT cancer_study_identifier, attribute_name, attribute_value, COUNT(DISTINCT sample_unique_id) AS n FROM clinical_data_derived WHERE lower(attribute_value) LIKE '%carcinosarcoma%' GROUP BY cancer_study_identifier, attribute_name, attribute_value ORDER BY n DESC ", "max_rows": 100 } ◀ result {"rows":[{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":293},{"cancer_study_identifier":"ucec_ancestry_cds_msk_2023","attribute_name":"HISTOLOGY","attribute_value":"Carcinosarcoma","n":225},{"cancer_study_identifier":"ucec_ancestry_cds_msk_2023","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":225},{"cancer_study_identifier":"msk_met_2021","attribute_name":"SUBTYPE","attribute_value":"Uterine Carcinosarcoma","n":192},{"cancer_study_identifier":"msk_met_2021","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":192},{"cancer_study_identifier":"pancan_mimsi_msk_2024","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":136},{"cancer_study_identifier":"pancan_pdmr_2025","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":105},{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Ovarian Carcinosarcoma/Malignant Mixed Mesodermal Tumor","n":81},{"cancer_study_identifier":"ucs_tcga","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":57},{"cancer_study_identifier":"ucs_tcga_gdc","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":57},{"cancer_study_identifier":"ucs_tcga_pan_can_atlas_2018","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":57},{"cancer_study_identifier":"ucs_tcga_gdc","attribute_name":"CANCER_TYPE","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":57},{"cancer_study_identifier":"cellline_ccle_broad","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Ovarian Carcinosarcoma/Malignant Mixed Mesodermal Tumor","n":47},{"cancer_study_identifier":"mycf_msk_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":40},{"cancer_study_identifier":"msk_impact_2017","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":38},{"cancer_study_identifier":"ucec_msk_2018","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","n":37},{"cancer_study_identifier":"ucs_tcga_pan_can_atlas_2018","attribute_name":"TUMOR_TYPE","attribute_value":"Uterine Carcinosarcoma","n":30},{"cancer_study_identifier":"ucs_jhu_2014","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Uterine Carcinosarcoma/Uterine Mal … (7821 more chars) ▶ clickhouse_run_select_query { "query": " SELECT sample_unique_id, patient_unique_id, hugo_gene_symbol, mutation_variant, mutation_type FROM genomic_event_derived WHERE cancer_study_identifier = 'nsclc_tracerx_2017' AND sample_unique_id IN ( SELECT sample_unique_id FROM clinical_data_derived WHERE cancer_study_identifier = 'nsclc_tracerx_2017' AND attribute_name = 'HISTOLOGY' AND attribute_value = 'Carcinosarcoma' ) AND hugo_gene_symbol = 'BRIP1' " } ◀ result {"rows":[]} ▶ clickhouse_run_select_query { "query": " SELECT cancer_study_identifier, attribute_name, attribute_value, COUNT(DISTINCT sample_unique_id) AS n FROM clinical_data_derived WHERE (lower(attribute_value) LIKE '%sarcomatoid%' OR lower(attribute_value) LIKE '%pleomorphic%') AND attribute_name IN ('HISTOLOGY','CANCER_TYPE_DETAILED','HISTOLOGIC_SUBTYPE','HISTOLOGICAL_DIAGNOSIS','SUBTYPE') GROUP BY cancer_study_identifier, attribute_name, attribute_value ORDER BY n DESC LIMIT 30 " } ◀ result {"rows":[{"cancer_study_identifier":"sarcoma_msk_2022","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma","n":329},{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":230},{"cancer_study_identifier":"pancan_pdmr_2025","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":226},{"cancer_study_identifier":"msk_met_2021","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":161},{"cancer_study_identifier":"sarcoma_mskcc_2022","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Maligant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":145},{"cancer_study_identifier":"ccrcc_utokyo_2013","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Renal Clear Cell Carcinoma with Sarcomatoid Features","n":106},{"cancer_study_identifier":"sarcoma_msk_2022","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Pleomorphic Liposarcoma","n":64},{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Pleomorphic Carcinoma of the Lung","n":61},{"cancer_study_identifier":"msk_impact_2017","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":59},{"cancer_study_identifier":"pan_origimed_2020","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma Malignant Fibrous Histiocytoma","n":55},{"cancer_study_identifier":"sarc_tcga_pan_can_atlas_2018","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":50},{"cancer_study_identifier":"sarc_tcga","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":49},{"cancer_study_identifier":"msk_chord_2024","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Pleomorphic Carcinoma of the Lung","n":45},{"cancer_study_identifier":"sarc_tcga_pub","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma","n":44},{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Sarcomatoid Carcinoma of the Lung","n":30},{"cancer_study_identifier":"msk_impact_50k_2026","attribute_name":"CANCER_TYPE_DETAILED","attribute_value":"Pleomorphic Liposarcoma","n":29},{"cancer_study_identifier":"sarcoma_msk_202 … (2242 more chars) ▶ clickhouse_run_select_query { "query": " WITH cohort AS ( SELECT DISTINCT sample_unique_id, attribute_value AS histology FROM clinical_data_derived WHERE cancer_study_identifier = 'msk_impact_50k_2026' AND attribute_name = 'CANCER_TYPE_DETAILED' AND attribute_value IN ('Sarcomatoid Carcinoma of the Lung','Pleomorphic Carcinoma of the Lung') ), altered AS ( SELECT c.histology, COUNT(DISTINCT ged.sample_unique_id) AS altered_samples FROM genomic_event_derived ged JOIN cohort c USING (sample_unique_id) WHERE ged.cancer_study_identifier = 'msk_impact_50k_2026' AND ged.variant_type = 'mutation' AND ged.mutation_status != 'UNCALLED' AND ged.hugo_gene_symbol = 'BRIP1' AND ged.off_panel = 0 GROUP BY c.histology ), profiled AS ( SELECT c.histology, COUNT(DISTINCT stgp.sample_unique_id) AS profiled_samples FROM sample_to_gene_panel_derived stgp JOIN gene_panel gp ON stgp.gene_panel_id = gp.stable_id JOIN gene_panel_list gpl ON gp.internal_id = gpl.internal_id JOIN gene g ON gpl.gene_id = g.entrez_gene_id JOIN cohort c ON c.sample_unique_id = stgp.sample_unique_id WHERE stgp.alteration_type = 'MUTATION_EXTENDED' AND g.hugo_gene_symbol = 'BRIP1' AND stgp.cancer_study_identifier = 'msk_impact_50k_2026' GROUP BY c.histology ) SELECT p.histology, COALESCE(a.altered_samples,0) AS altered, p.profiled_samples, ROUND(COALESCE(a.altered_samples,0)*100.0/p.profiled_samples,2) AS pct FROM profiled p LEFT JOIN altered a USING (histology) " } ◀ result {"rows":[{"histology":"Pleomorphic Carcinoma of the Lung","altered":1,"profiled_samples":61,"pct":1.64},{"histology":"Sarcomatoid Carcinoma of the Lung","altered":0,"profiled_samples":30,"pct":0}]} ▶ resolve_and_route { "studyIds": [ "msk_impact_50k_2026", "nsclc_tracerx_2017" ] } ◀ result {"success":true,"message":"Found 2 matching studies. Pick the best match (prefer TCGA → prefer PanCancer Atlas), use its metadata to call the appropriate navigation tool(s) and generate URLs immediately. Present other studies as alternatives.","data":{"totalCount":2,"studiesWithMetadata":[{"studyId":"msk_impact_50k_2026","name":"MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)","sampleCount":54331,"studyViewUrl":"https://www.cbioportal.org/study?id=msk_impact_50k_2026","metadata":{"clinicalAttributeIds":["AGE_AT_DX","ANCESTRY_LABEL","CANCER_TYPE","CANCER_TYPE_DETAILED","DISEASE_STATUS","FACETS_PLOIDY","FACETS_PURITY","FACETS_QC","FACETS_SUITE_VERSION","FACETS_WGD","FRACTION_GENOME_ALTERED","GENE_PANEL","HLA-A1","HLA-A2","HLA-B1","HLA-B2","HLA-C1","HLA-C2","HLA_A1_LOH","HLA_A2_LOH","HLA_B1_LOH","HLA_B2_LOH","HLA_C1_LOH","HLA_C2_LOH","HLA_GENOTYPE_AVAILABLE","METASTATIC_SITE","MSI_SCORE","MSI_TYPE","MUTATION_COUNT","N_OTHER_CANCER_TYPES","ONCOTREE_CODE","OS_MONTHS","OS_STATUS","PRIMARY_SITE","PURITY_ESTIMATE_FROM_MUTATIONS","SAMPLE_COUNT","SAMPLE_COVERAGE","SAMPLE_TYPE","SEX","SOMATIC_STATUS","TMB_SCORE","TUMOR_PURITY"],"molecularProfileIds":["msk_impact_50k_2026_gistic","msk_impact_50k_2026_mutations","msk_impact_50k_2026_structural_variants"],"genericAssayProfiles":["msk_impact_50k_2026_armlevel_cna","msk_impact_50k_2026_loh_hla","msk_impact_50k_2026_mutational_signatures_contribution_v2"],"availableComparisonTabs":["overlap","clinical","survival","alterations","mutations","generic_assay_armlevel_cna","generic_assay_loh_hla","generic_assay_mutational_signature"]}},{"studyId":"nsclc_tracerx_2017","name":"Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017)","sampleCount":447,"studyViewUrl":"https://www.cbioportal.org/study?id=nsclc_tracerx_2017","metadata":{"clinicalAttributeIds":["ADJUVANT_TX","AGE","CANCER_TYPE","CANCER_TYPE_DETAILED","CFDNA_INPUT_NG","CT_SLICE_SPACING","ECOG_SCORE","ETHNICITY","GENOME_DOUBLED","HISTOLOGY","KI_67","LNI","MARGIN_STATUS","MUTATION_COUNT","ONCOTREE_CODE","PERCENTAGE_NECROSIS","PET_TBR","PLEURAL_INVASION","RFS_MONTHS","RFS_STATUS","SAMPLE_CLASS","SAMPLE_COLLECTION_TIMEPOINT","SAMPLE_COUNT","SAMPLE_TYPE","SEX","SMOKING_HISTORY","SMOKING_PACK_YEARS","SOMATIC_STATUS","TMB_NONSYNONYMOUS","TUMOR_SIZE","TUMOR_STAGE","TUMOR_VOLUME","UBIQUITOUS_ASSAY_PANEL","VASCULAR_INVASION"],"molecularProfileIds":["nsclc_tracerx_2017_mutations"],"availableComparisonTabs":["overlap","clinical","survival","alterations","mutations"]}}]}} ▶ navigate_to_study_view { "studyIds": [ "msk_impact_50k_2026" ], "filterJson": { "clinicalDataFilters": [ { "attributeId": "CANCER_TYPE_DETAILED", "values": [ { "value": "Sarcomatoid Carcinoma of the Lung" }, { "value": "Pleomorphic Carcinoma of the Lung" } ] } ], "geneFilters": [ { "molecularProfileIds": [ "msk_impact_50k_2026_mutations" ], "geneQueries": [ [ { "hugoGeneSymbol": "BRIP1" } ] ] } ] } } ◀ result {"success":true,"message":"Navigating to https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22CANCER_TYPE_DETAILED%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Sarcomatoid%20Carcinoma%20of%20the%20Lung%22%7D%2C%7B%22value%22%3A%22Pleomorphic%20Carcinoma%20of%20the%20Lung%22%7D%5D%7D%5D%2C%22geneFilters%22%3A%5B%7B%22geneQueries%22%3A%5B%5B%7B%22hugoGeneSymbol%22%3A%22BRIP1%22%7D%5D%5D%2C%22molecularProfileIds%22%3A%5B%22msk_impact_50k_2026_mutations%22%5D%7D%5D%7D","url":"https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22CANCER_TYPE_DETAILED%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Sarcomatoid%20Carcinoma%20of%20the%20Lung%22%7D%2C%7B%22value%22%3A%22Pleomorphic%20Carcinoma%20of%20the%20Lung%22%7D%5D%7D%5D%2C%22geneFilters%22%3A%5B%7B%22geneQueries%22%3A%5B%5B%7B%22hugoGeneSymbol%22%3A%22BRIP1%22%7D%5D%5D%2C%22molecularProfileIds%22%3A%5B%22msk_impact_50k_2026_mutations%22%5D%7D%5D%7D","data":{"studyIds":["msk_impact_50k_2026"],"studies":[{"studyId":"msk_impact_50k_2026","name":"MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)","sampleCount":54331}],"tab":"summary","hasFilters":true,"hasPlotsConfig":false,"pageDescription":"Overview of all study data displayed as interactive charts summarizing available clinical and genomic data. Click within a chart to filter. Additional charts may be available in the Charts menu."}} ▶ navigate_to_results_view { "studyIds": [ "msk_impact_50k_2026" ], "genes": [ "BRIP1" ], "studyViewFilter": { "clinicalDataFilters": [ { "attributeId": "CANCER_TYPE_DETAILED", "values": [ { "value": "Sarcomatoid Carcinoma of the Lung" }, { "value": "Pleomorphic Carcinoma of the Lung" } ] } ] }, "tab": "oncoprint" } ◀ result {"success":true,"message":"Navigating to https://www.cbioportal.org/results/oncoprint?session_id=6ab5ca2fe497aad53593c277","url":"https://www.cbioportal.org/results/oncoprint?session_id=6ab5ca2fe497aad53593c277","data":{"studyIds":["msk_impact_50k_2026"],"studies":[{"studyId":"msk_impact_50k_2026","name":"MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)","sampleCount":54331}],"genes":["BRIP1"],"filteredSampleCount":91,"caseSetId":"-1","sessionId":"6ab5ca2fe497aad53593c277","studyViewUrl":"https://www.cbioportal.org/study?id=msk_impact_50k_2026#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22CANCER_TYPE_DETAILED%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Sarcomatoid%20Carcinoma%20of%20the%20Lung%22%7D%2C%7B%22value%22%3A%22Pleomorphic%20Carcinoma%20of%20the%20Lung%22%7D%5D%7D%5D%7D","pageDescription":"Visual summary of alterations in queried genes across samples."}} ═ answer (success) ## Answer **No — there is no evidence in cBioPortal for an association between lung carcinosarcoma and BRIP1 mutations, primarily because true "lung carcinosarcoma" is essentially absent as a labeled entity in this database.** ### What I found 1. **Dedicated lung carcinosarcoma cohort:** None. Across all cBioPortal studies, "carcinosarcoma" as a clinical label appears only for breast, ovarian, and uterine cancers (per OncoTree and clinical annotations). The **only** lung sample anywhere in the database annotated as `HISTOLOGY = "Carcinosarcoma"` is a single case in the TRACERx NSCLC study (`nsclc_tracerx_2017`) — and that one sample has **no BRIP1 mutation** on record. 2. **Closest related entities (pulmonary sarcomatoid carcinoma spectrum):** Since true carcinosarcoma is a related but distinct WHO entity from sarcomatoid carcinoma, I checked the closest available lung histologies in the largest cohort (`msk_impact_50k_2026`): | Histology | BRIP1-mutated | Profiled | Frequency | |---|---|---|---| | Pleomorphic Carcinoma of the Lung | 1 | 61 | 1.6% | | Sarcomatoid Carcinoma of the Lung | 0 | 30 | 0% | These frequencies (0–1.6%) are **low and unremarkable** — consistent with background BRIP1 mutation rates seen broadly in NSCLC, not indicative of an enrichment or disease-defining association. ### Bottom line With only 1 true lung carcinosarcoma sample in the entire database (BRIP1-wildtype) and n=0–1 BRIP1 mutations in the closest related sarcomatoid/pleomorphic lung carcinoma groups (total n=91), there is **no statistical basis to claim an association** between lung carcinosarcoma and BRIP1. This is a sample-size/data-availability limitation, not a negative finding — the cohort is simply too small to draw a conclusion either way. [View BRIP1 in Sarcomatoid/Pleomorphic Lung Carcinoma — OncoPrint](https://www.cbioportal.org/results/oncoprint?session_id=6ab5ca2fe497aad53593c277) (n=91 samples, MSK-IMPACT 50K) [View same cohort in Study View](https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22CANCER_TYPE_DETAILED%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Sarcomatoid%20Carcinoma%20of%20the%20Lung%22%7D%2C%7B%22value%22%3A%22Pleomorphic%20Carcinoma%20of%20the%20Lung%22%7D%5D%7D%5D%2C%22geneFilters%22%3A%5B%7B%22geneQueries%22%3A%5B%5B%7B%22hugoGeneSymbol%22%3A%22BRIP1%22%7D%5D%5D%2C%22molecularProfileIds%22%3A%5B%22msk_impact_50k_2026_mutations%22%5D%7D%5D%7D) If you're aware of a specific lung carcinosarcoma cohort published outside these MSK/TCGA-derived deployments, let me know the study name and I can check whether it's separately indexed in cBioPortal.