Profile of esophageal squamous cell carcinoma mutations in Brazilian patients

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMUNARI, Fernanda Franco
dc.contributor.authorSANTOS, Wellington dos
dc.contributor.authorEVANGELISTA, Adriane Feijo
dc.contributor.authorCARVALHO, Ana Carolina
dc.contributor.authorPASTREZ, Paula Aguiar
dc.contributor.authorBUGATTI, Diego
dc.contributor.authorWOHNRATH, Durval R.
dc.contributor.authorSCAPULATEMPO-NETO, Cristovam
dc.contributor.authorGUIMARAES, Denise Peixoto
dc.contributor.authorLONGATTO-FILHO, Adhemar
dc.contributor.authorREIS, Rui Manuel
dc.date.accessioned2022-02-24T17:19:40Z
dc.date.available2022-02-24T17:19:40Z
dc.date.issued2021
dc.description.abstractEsophageal 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.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipPublic Ministry of Labor Campinas (Research, Prevention, and Education of Occupational Cancer, Brazil)
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2015/20077-3]
dc.identifier.citationSCIENTIFIC REPORTS, v.11, n.1, article ID 20596, 13p, 2021
dc.identifier.doi10.1038/s41598-021-00208-7
dc.identifier.issn2045-2322
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/44632
dc.language.isoeng
dc.publisherNATURE PORTFOLIOeng
dc.relation.ispartofScientific Reports
dc.rightsopenAccesseng
dc.rights.holderCopyright NATURE PORTFOLIOeng
dc.subject.othergenomic characterizationeng
dc.subject.otherevolutionary actioneng
dc.subject.othercancereng
dc.subject.othersurvivaleng
dc.subject.otherlandscapeeng
dc.subject.othernrf2eng
dc.subject.otherdetermineseng
dc.subject.otherpathwayeng
dc.subject.othergeneseng
dc.subject.otherheadeng
dc.subject.wosMultidisciplinary Scienceseng
dc.titleProfile of esophageal squamous cell carcinoma mutations in Brazilian patientseng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryPortugal
hcfmusp.affiliation.countryisopt
hcfmusp.author.externalMUNARI, Fernanda Franco:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil
hcfmusp.author.externalSANTOS, Wellington dos:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil
hcfmusp.author.externalEVANGELISTA, Adriane Feijo:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil
hcfmusp.author.externalCARVALHO, Ana Carolina:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil
hcfmusp.author.externalPASTREZ, Paula Aguiar:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil
hcfmusp.author.externalBUGATTI, Diego:Barretos Canc Hosp, Dept Upper Digest, Barretos, Brazil
hcfmusp.author.externalWOHNRATH, Durval R.:Barretos Canc Hosp, Dept Upper Digest, Barretos, Brazil
hcfmusp.author.externalSCAPULATEMPO-NETO, Cristovam:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil; Barretos Canc Hosp, Dept Pathol, Barretos, Brazil
hcfmusp.author.externalGUIMARAES, Denise Peixoto:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil; Barretos Canc Hosp, Dept Endoscopy, Barretos, Brazil
hcfmusp.author.externalREIS, Rui Manuel:Barretos Canc Hosp, Mol Oncol Res Ctr, Antenor Duarte Villela 1331, BR-14784400 Barretos, SP, Brazil; Univ Minho, Sch Med, Life & Hlth Sci Res Inst ICVS, Braga, Portugal; ICVS 3Bs PT Govt Associate Lab, Braga, Guimaraes, Portugal
hcfmusp.citation.scopus2
hcfmusp.contributor.author-fmusphcADHEMAR LONGATTO FILHO
hcfmusp.description.articlenumber20596
hcfmusp.description.issue1
hcfmusp.description.volume11
hcfmusp.origemWOS
hcfmusp.origem.pubmed34663841
hcfmusp.origem.scopus2-s2.0-85117512353
hcfmusp.origem.wosWOS:000741362500007
hcfmusp.publisher.cityBERLINeng
hcfmusp.publisher.countryGERMANYeng
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