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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  < 0.00001). Tumor mutational burden (TMB) analysis was available for 80.5% of samples tested, and 5.5% of samples had high TMB (≥ 20 mutations/Mb).  In conclusion, this retrospective analysis of genomic data from NSCLC patients obtained by CGP showed that common abnormalities such as  EGFR  mutations and  ALK  rearrangements had similar frequency to those previously described by other groups using others strategies. Additionally, our data confirm an association between  TP53  p.R337H, supposedly germline in nature, and somatic mutations in genes of the HER family.    Key points    Significant findings of the study    This is the first report of the prevalence of driver mutations in Brazilian NSCLC patients using comprehensive genomic profiling (CGP).  The frequency of the most common driver mutations in this population was similar to that previously described in Brazil.What this study addsTP53  was the most commonly comutated gene across samples.  TP53  p.R337H was associated with somatic mutations in  EGFR  and  ERBB2 .  Most samples had low TMB; only 5.5% of samples had high TMB.

Comprehensive genomic profiling of Brazilian non‐small cell lung cancer patients ( GBOT 0118/ LACOG0418 )