دورية أكاديمية
أعرض في EDS

Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.

التفاصيل البيبلوغرافية
العنوان: Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.
المؤلفون: Munari FF; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil., Dos Santos W; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil., Evangelista AF; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil., Carvalho AC; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil., Pastrez PA; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil., Bugatti D; Department of Upper Digestive, Barretos Cancer Hospital, Barretos, Brazil., Wohnrath DR; Department of Upper Digestive, Barretos Cancer Hospital, Barretos, Brazil., Scapulatempo-Neto C; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil.; Department of Pathology, Barretos Cancer Hospital, Barretos, Brazil., Guimarães DP; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil.; Department of Endoscopy, Barretos Cancer Hospital, Barretos, Brazil., Longatto-Filho A; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil.; Medical Laboratory of Medical Investigation (LIM) 14, Department of Pathology, Medical School, University of São Paulo, São Paulo, Brazil.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela, 1331, Barretos, São Paulo, 14784 400, Brazil. ruireis.hcb@gmail.com.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal. ruireis.hcb@gmail.com.; ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal. ruireis.hcb@gmail.com.
المصدر: Scientific reports [Sci Rep] 2021 Oct 18; Vol. 11 (1), pp. 20596. Date of Electronic Publication: 2021 Oct 18.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Esophageal Squamous Cell Carcinoma/*epidemiology , Esophageal Squamous Cell Carcinoma/*genetics , Transcriptome/*genetics, Adult ; Aged ; Biomarkers, Tumor/genetics ; Brazil/epidemiology ; Carcinoma, Squamous Cell/pathology ; Esophageal Neoplasms/pathology ; Female ; Gene Expression/genetics ; Gene Expression Profiling/methods ; Gene Expression Regulation, Neoplastic/genetics ; Genomics/methods ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation/genetics
مستخلص: 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.
(© 2021. The Author(s).)
References: Am J Gastroenterol. 2014 Jun;109(6):822-7. (PMID: 24751582)
Annu Rev Pharmacol Toxicol. 2007;47:89-116. (PMID: 16968214)
N Engl J Med. 2008 Oct 23;359(17):1757-65. (PMID: 18946061)
Nature. 2020 May;581(7809):434-443. (PMID: 32461654)
Am J Hum Genet. 2015 Apr 2;96(4):597-611. (PMID: 25839328)
Gastroenterology. 2018 Jan;154(2):360-373. (PMID: 28823862)
Genome Res. 2014 Dec;24(12):2050-8. (PMID: 25217195)
Oncol Lett. 2020 Oct;20(4):42. (PMID: 32802164)
Expert Rev Gastroenterol Hepatol. 2016;10(5):595-604. (PMID: 26895097)
Int J Cancer. 2002 Mar 1;98(1):99-105. (PMID: 11857392)
Nat Commun. 2017 Nov 16;8(1):1533. (PMID: 29142225)
Sci Rep. 2019 Sep 23;9(1):13687. (PMID: 31548566)
Carcinogenesis. 2008 Jun;29(6):1235-43. (PMID: 18413364)
Nat Commun. 2017 Sep 12;8(1):524. (PMID: 28900112)
Nature. 2017 Jan 12;541(7636):169-175. (PMID: 28052061)
Nat Biotechnol. 2013 Mar;31(3):213-9. (PMID: 23396013)
Cancers (Basel). 2019 Dec 30;12(1):. (PMID: 31905960)
Mutat Res. 2010 Feb;696(1):10-5. (PMID: 19944185)
Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199)
Am J Hum Genet. 2016 Feb 4;98(2):256-74. (PMID: 26833333)
Cancer Res. 2016 Apr 1;76(7):1714-23. (PMID: 26857264)
Gastroenterology. 2016 May;150(5):1171-1182. (PMID: 26873401)
Genome Biol. 2016 Jun 06;17(1):122. (PMID: 27268795)
Nature. 2019 Nov;575(7781):217-223. (PMID: 31666701)
Oncogene. 2015 Apr 30;34(18):2347-59. (PMID: 24931169)
Cell. 2017 Aug 10;170(4):605-635. (PMID: 28802037)
Science. 2004 Apr 23;304(5670):554. (PMID: 15016963)
Sci Rep. 2017 Nov 10;7(1):15324. (PMID: 29127303)
Nat Genet. 2014 Oct;46(10):1097-102. (PMID: 25151357)
Can Assoc Radiol J. 2015 May;66(2):130-9. (PMID: 25770628)
Int J Cancer. 2019 Apr 15;144(8):1941-1953. (PMID: 30350310)
N Engl J Med. 2007 Dec 20;357(25):2552-61. (PMID: 18094376)
Nat Genet. 2016 Dec;48(12):1500-1507. (PMID: 27749841)
Int J Cancer. 2009 Aug 1;125(3):491-524. (PMID: 19415743)
Nat Genet. 2014 May;46(5):467-73. (PMID: 24686850)
J Clin Oncol. 2009 Feb 10;27(5):812-26. (PMID: 19103723)
Cancer Res. 2015 Apr 1;75(7):1527-36. (PMID: 25634208)
Genome Med. 2018 Mar 28;10(1):25. (PMID: 29592813)
Nature. 2014 May 1;509(7498):91-5. (PMID: 24670651)
Sci Rep. 2016 Jun 21;6:28280. (PMID: 27323696)
Dis Esophagus. 2017 Apr 1;30(4):1-9. (PMID: 28375484)
Clin Cancer Res. 2014 Sep 1;20(17):4647-59. (PMID: 24696321)
Am J Hum Genet. 2016 Apr 7;98(4):709-27. (PMID: 27058444)
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33. (PMID: 25431634)
Genome Res. 2012 Mar;22(3):568-76. (PMID: 22300766)
CA Cancer J Clin. 2018 Nov;68(6):394-424. (PMID: 30207593)
Br J Cancer. 1973 Sep;28(3):197-214. (PMID: 4743904)
Cancer Res. 2013 Jul 1;73(13):4158-68. (PMID: 23610445)
Nat Rev Cancer. 2012 Jul 19;12(8):564-71. (PMID: 22810811)
Infect Agent Cancer. 2018 Dec 29;13:43. (PMID: 30619505)
المشرفين على المادة: 0 (Biomarkers, Tumor)
تواريخ الأحداث: Date Created: 20211019 Date Completed: 20220202 Latest Revision: 20220202
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8523676
DOI: 10.1038/s41598-021-00208-7
PMID: 34663841
قاعدة البيانات: MEDLINE
الوصف
تدمد:2045-2322
DOI:10.1038/s41598-021-00208-7