Profile of esophageal squamous cell carcinoma mutations in Brazilian patients

Esophageal cancer is an aggressive tumor that has a high rate of incidence and mortality worldwide. It is the 10th most frequent type in Brazil, being squamous cell carcinoma (ESCC) the predominant subtype. There is currently an incessant search to identify the frequently altered genes associated wi...

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Bibliographic Details
Published in:	Scientific reports Vol. 11; no. 1; p. 20596
Main Authors:	Munari, Fernanda Franco, dos Santos, Wellington, Evangelista, Adriane Feijó, Carvalho, Ana Carolina, Pastrez, Paula Aguiar, Bugatti, Diego, Wohnrath, Durval R., Scapulatempo-Neto, Cristovam, Guimarães, Denise Peixoto, Longatto-Filho, Adhemar, Reis, Rui Manuel
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 18-10-2021 Nature Publishing Group Nature Portfolio
Subjects:	631/67/1504 631/67/69 Adult Aged Biomarkers, Tumor - genetics Brazil - epidemiology Carcinoma, Squamous Cell - pathology Esophageal cancer Esophageal Neoplasms - pathology Esophageal Squamous Cell Carcinoma - epidemiology Esophageal Squamous Cell Carcinoma - genetics Esophagus Female Gene Expression - genetics Gene Expression Profiling - methods Gene Expression Regulation, Neoplastic - genetics Gene frequency Genomics - methods High-Throughput Nucleotide Sequencing Humanities and Social Sciences Humans Male Middle Aged multidisciplinary Mutation Mutation - genetics Next-generation sequencing Notch1 protein p53 Protein Patients PTEN protein Science Science (multidisciplinary) Squamous cell carcinoma Transcriptome - genetics Brazil
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Summary:	Esophageal cancer is an aggressive tumor that has a high rate of incidence and mortality worldwide. It is the 10th most frequent type in Brazil, being squamous cell carcinoma (ESCC) the predominant subtype. There is currently an incessant search to identify the frequently altered genes associated with esophageal squamous cell carcinoma biology that could be druggable. This study aimed to analyze the somatic mutation profile of a large panel of cancer-related genes in Brazilian ESCC. In a series of 46 ESCC diagnoses at Barretos Cancer Hospital, DNA isolated from paired fresh-frozen and blood tissue, a panel of 150 cancer-related genes was analyzed by next-generation sequencing. The genes with the highest frequency of mutations were TP53 (39/46, 84.8%), followed by NOTCH1 (7/46, 15.2%), NFE2L2 (5/46, 10.8%), RB1 (3/46, 6.5%), PTEN (3/46, 6.5%), CDKN2A (3/46, 6.5%), PTCH1 (2/46, 4.3%) and PIK3CA (2/46, 4.3%). There was no significant association between molecular and patients’ clinicopathological features. Applying an evolutionary action score of p53 (EAp53), we observed that 14 (35.9%) TP53 mutations were classified as high-risk, yet no association with overall survival was observed. Concluding, this the largest mutation profile of Brazilian ESCC patients, which helps in the elucidation of the major cancer-related genes in this population.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-021-00208-7