{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T13:09:38Z","timestamp":1781010578875,"version":"3.54.1"},"reference-count":13,"publisher":"Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,8]]},"DOI":"10.31744\/einstein_journal\/2026ao2000","type":"journal-article","created":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T12:54:48Z","timestamp":1781009688000},"source":"Crossref","is-referenced-by-count":0,"title":["Real-world genomic profiling of solid tumors: validation and clinical insights from a Brazilian cohort"],"prefix":"10.31744","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1412-3085","authenticated-orcid":false,"given":"Thalita Xavier de","family":"Souza","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0849-9569","authenticated-orcid":false,"given":"Roberta Cardoso","family":"Petroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4312-2329","authenticated-orcid":false,"given":"Larissa Barbosa de","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3388-0369","authenticated-orcid":false,"given":"Luiz Gustavo Ferreira","family":"Cortes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9166-3111","authenticated-orcid":false,"given":"Gustavo Santos de","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5243-886X","authenticated-orcid":false,"given":"Caroline Nunes","family":"Silveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8757-7029","authenticated-orcid":false,"given":"Nair Hideko","family":"Muto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4412-625X","authenticated-orcid":false,"given":"Joice Rosa","family":"Santana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-1700","authenticated-orcid":false,"given":"Priscila Iamashita","family":"Higaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1374-4239","authenticated-orcid":false,"given":"Amanda Centenaro","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4385-3658","authenticated-orcid":false,"given":"Susana Elaine Alves da","family":"Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2571-5689","authenticated-orcid":false,"given":"Rodrigo","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2181-8405","authenticated-orcid":false,"given":"Miguel","family":"Zugman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1967-1544","authenticated-orcid":false,"given":"Fernando","family":"Moura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6122-1374","authenticated-orcid":false,"suffix":"Junior","given":"Pedro Luiz Serrano","family":"Us\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6005-405X","authenticated-orcid":false,"given":"Paulo Vidal","family":"Campregher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"16942","reference":[{"key":"key20260609125441_B1","author":"World Health Organization (WHO)","year":"2018","unstructured":"1. World Health Organization (WHO). Cancer. Geneva: WHO; 2018 [cited 2025 Nov 3]. Available from: https:\/\/www.who.int\/health-topics\/cancer#tab=tab_1","journal-title":"Cancer"},{"issue":"11","key":"key20260609125441_B2","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1093\/oncolo\/oyac134","article-title":"Implementation and clinical adoption of precision oncology workflows across a healthcare network","volume":"27","author":"Dias-Santagata","year":"2022","unstructured":"2. Dias-Santagata D, Heist RS, Bard AZ, da Silva AF, Dagogo-Jack I, Nardi V, et al. Implementation and clinical adoption of precision oncology workflows across a healthcare network. Oncologist. 2022;27(11):930-9.","journal-title":"Oncologist"},{"issue":"5","key":"key20260609125441_B3","doi-asserted-by":"crossref","DOI":"10.1200\/PO.20.00513","article-title":"Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice","volume":"5","author":"Hicks","year":"2021","unstructured":"3. Hicks JK, Howard R, Reisman P, Adashek JJ, Fields KK, Gray JE, et al. Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice. JCO Precis Oncol. 2021;5(5):PO.20.00513.","journal-title":"JCO Precis Oncol"},{"issue":"3","key":"key20260609125441_B4","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.jmoldx.2014.12.006","article-title":"Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology","volume":"17","author":"Cheng","year":"2015","unstructured":"4. Cheng DT, Mitchell TN, Zehir A, Shah RH, Benayed R, Syed A, et al. Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn. 2015;17(3):251-64.","journal-title":"J Mol Diagn"},{"issue":"1","key":"key20260609125441_B5","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41591-022-02160-z","article-title":"The next generation of evidence-based medicine","volume":"29","author":"Subbiah","year":"2023","unstructured":"5. Subbiah V. The next generation of evidence-based medicine. Nat Med. 2023;29(1):49-58.","journal-title":"Nat Med"},{"key":"key20260609125441_B6","author":"Illumina","year":"2018","unstructured":"6. Illumina. Analysis of TMB and MSI Status with TruSightTM Oncology 500: An optimized solid tumor assay with error-corrected sequencing and an informatic pipeline for the robust analysis of tumor mutational burden (TMB) and microsatellite instability (MSI). Illumina, 2018 [cited 2025 Nov 3]. Available from: https:\/\/www.illumina.com\/content\/dam\/illumina-marketing\/documents\/products\/appnotes\/trusight-oncology-500-tmb-analysis-1170-2018-009.pdf","journal-title":"Analysis of TMB and MSI Status with TruSightTM Oncology 500: An optimized solid tumor assay with error-corrected sequencing and an informatic pipeline for the robust analysis of tumor mutational burden (TMB) and microsatellite instability (MSI)"},{"issue":"5","key":"key20260609125441_B7","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.gim.2022.01.001","article-title":"Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)","volume":"24","author":"Horak","year":"2022","unstructured":"7. Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022;24(5):986-98.","journal-title":"Genet Med"},{"issue":"10","key":"key20260609125441_B8","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.5858\/arpa.2021-0632-CP","article-title":"Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy: Guideline From the College of American Pathologists in Collaboration With the Association for Molecular Pathology and Fight Colorectal Cancer","volume":"146","author":"Bartley","year":"2022","unstructured":"8. Bartley AN, Mills AM, Konnick E, Overman M, Ventura CB, Souter L, et al. Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy: Guideline From the College of American Pathologists in Collaboration With the Association for Molecular Pathology and Fight Colorectal Cancer. Arch Pathol Lab Med. 2022;146(10):1194-210.","journal-title":"Arch Pathol Lab Med"},{"issue":"8","key":"key20260609125441_B9","doi-asserted-by":"crossref","DOI":"10.1200\/PO.24.00047","article-title":"Microsatellite Instability and Clinical Use in Sarcomas: Systematic Review and Illustrative Case Report","volume":"8","author":"Fernandes","year":"2024","unstructured":"9. Fernandes I, Dias E Silva D, Segatelli V, Filippi RZ, Carolina de Rezende A, Campregher P, et al. Microsatellite Instability and Clinical Use in Sarcomas: Systematic Review and Illustrative Case Report. JCO Precis Oncol. 2024; 8(8):e2400047.","journal-title":"JCO Precis Oncol"},{"key":"key20260609125441_B10","author":"Suehnholz","year":"2023","unstructured":"10. Suehnholz EA. OncoKB. OncoKB, 2023 [cited 2025 Nov 3]. Available from: https:\/\/www.oncokb.org\/gene\/BRAF\/V600E","journal-title":"OncoKB"},{"issue":"1","key":"key20260609125441_B11","doi-asserted-by":"crossref","DOI":"10.1186\/s13046-020-01554-6","article-title":"Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers","volume":"39","author":"Federici","year":"2020","unstructured":"11. Federici G, Soddu S. Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers. J Exp Clin Cancer Res. 2020;39(1):46.","journal-title":"J Exp Clin Cancer Res"},{"key":"key20260609125441_B12","volume-title":"Investiga\u00e7\u00e3o dos mRNAs de Fus\u00e3o do Gene TMPRSS2\/ERG em Pacientes com C\u00e2ncer de Pr\u00f3stata","author":"Souza","year":"2013","unstructured":"12. Souza B. Investiga\u00e7\u00e3o dos mRNAs de Fus\u00e3o do Gene TMPRSS2\/ERG em Pacientes com C\u00e2ncer de Pr\u00f3stata. [disserta\u00e7\u00e3o]. Ribeir\u00e3o Preto: Faculdade de Medicina de Ribeir\u00e3o Preto; 2013."},{"issue":"1","key":"key20260609125441_B13","doi-asserted-by":"crossref","DOI":"10.1016\/j.esmoop.2021.100336","article-title":"Real-world application of tumor mutational burden-high (TMB-high) and microsatellite instability (MSI) confirms their utility as immunotherapy biomarkers","volume":"7","author":"Palmeri","year":"2022","unstructured":"13. Palmeri M, Mehnert J, Silk AW, Jabbour SK, Ganesan S, Popli P, et al. Real-world application of tumor mutational burden-high (TMB-high) and microsatellite instability (MSI) confirms their utility as immunotherapy biomarkers. ESMO Open. 2022;7(1):100336.","journal-title":"ESMO Open"}],"container-title":["einstein (S\u00e3o Paulo)"],"original-title":[],"language":"en","deposited":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T12:54:50Z","timestamp":1781009690000},"score":1,"resource":{"primary":{"URL":"https:\/\/journal.einstein.br\/article\/real-world-genomic-profiling-of-solid-tumors-validation-and-clinical-insights-from-a-brazilian-cohort\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":13,"alternative-id":["10.31744\/einstein_journal\/2026AO2000"],"URL":"https:\/\/doi.org\/10.31744\/einstein_journal\/2026ao2000","relation":{},"ISSN":["1679-4508","2317-6385"],"issn-type":[{"value":"1679-4508","type":"print"},{"value":"2317-6385","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"article-number":"eAO2000"}}