1. Comprehensive genomic profiling of Brazilian non‐small cell lung cancer patients (GBOT 0118/LACOG0418)
- Author
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L.H. Araujo, Ana Caroline Gelatti, Eldsamira Mascarenhas, Clarissa Mathias, Gilberto de Castro, Rafaela Gomes, Mauro Zukin, Patricia Pacheco, Clarissa Baldotto, Gustavo Werutsky, and Vladmir Cláudio Cordeiro de Lima
- Subjects
Male ,0301 basic medicine ,Oncology ,Lung Neoplasms ,Genomic profiling ,Somatic cell ,medicine.disease_cause ,Germline ,0302 clinical medicine ,Carcinoma, Non-Small-Cell Lung ,Aged, 80 and over ,education.field_of_study ,Genomics ,General Medicine ,Middle Aged ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,030220 oncology & carcinogenesis ,Original Article ,Female ,KRAS ,genomic profiling ,Brazil ,Adult ,Pulmonary and Respiratory Medicine ,non‐small cell lung cancer ,medicine.medical_specialty ,tumor mutational burden ,Adolescent ,Co‐occurring mutations ,Population ,STK11 ,lcsh:RC254-282 ,Young Adult ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Lung cancer ,education ,Gene ,neoplasms ,Aged ,Retrospective Studies ,business.industry ,Original Articles ,medicine.disease ,030104 developmental biology ,Mutation ,business - Abstract
Background The aim of this study was to carry out a descriptive analysis of the somatic genetic profile and co‐occurring mutations of non‐small cell lung cancer (NSCLC) samples from patients tested with comprehensive genomic profiling (CGP). Methods This was a retrospective cross‐sectional study of patients diagnosed with NSCLC from 2013 to 2018 in Brazil and whose samples were submitted to CGP (FoundationOne or FoundationACT) using either tumor or circulating tumor DNA (ctDNA) from plasma. Results We recovered 513 CGP results from patients, 457 (89.1%) of which were from tumors and 56 (10.9%) from plasma. The median age of patients was 64 years old, of which 51.6% were males. TP53 mutations were identified in 53.6% of tumor samples, KRAS mutations in 24.2%, EGFR activating mutations were detected in 22.5%, STK11 mutations in 11.6%, PIK3CA mutations in 8.8%, ALK rearrangements in 5.4%, BRAF mutations in 5.2%, and ERBB2 alterations in 4.9%. The most commonly comutated gene was TP53. TP53 p.R337H was observed in 4.3% of samples and was associated with somatic mutations in EGFR and ERBB2 (P, This is the first report of the prevalence of driver mutations in Brazilian NSCLC patients using comprehensive genomic profiling.
- Published
- 2021