Profile of esophageal squamous cell carcinoma mutations in Brazilian patients

Imagem de Miniatura
Arquivos
art_MUNARI_Profile_of_esophageal_squamous_cell_carcinoma_mutations_in_2021.PDF (2.72 MB)
Citações na Scopus
2
Tipo de produção
article
Data de publicação
2021
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
NATURE PORTFOLIO
Autores
MUNARI, Fernanda Franco
SANTOS, Wellington dos
EVANGELISTA, Adriane Feijo
CARVALHO, Ana Carolina
PASTREZ, Paula Aguiar
BUGATTI, Diego
WOHNRATH, Durval R.
SCAPULATEMPO-NETO, Cristovam
GUIMARAES, Denise Peixoto
Citação
SCIENTIFIC REPORTS, v.11, n.1, article ID 20596, 13p, 2021
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/44632
Referências
  1. Abnet CC, 2018, GASTROENTEROLOGY, V154, P360, DOI 10.1053/j.gastro.2017.08.023
  2. Alqahtani A, 2020, CANCERS, V12, DOI 10.3390/cancers12010093
  3. Bray F, 2018, CA-CANCER J CLIN, V68, P394, DOI 10.3322/caac.21492
  4. Canon J, 2019, NATURE, V575, P217, DOI 10.1038/s41586-019-1694-1
  5. Chen XX, 2017, NAT COMMUN, V8, DOI 10.1038/s41467-017-00650-0
  6. Cheng CX, 2016, AM J HUM GENET, V98, P256, DOI 10.1016/j.ajhg.2015.12.013
  7. Cibulskis K, 2013, NAT BIOTECHNOL, V31, P213, DOI 10.1038/nbt.2514
  8. Deng JY, 2017, NAT COMMUN, V8, DOI 10.1038/s41467-017-01730-x
  9. dos Santos W, 2019, SCI REP-UK, V9, DOI 10.1038/s41598-019-49611-1
  10. Du PN, 2017, SCI REP-UK, V7, DOI 10.1038/s41598-017-14909-5
  11. Ferlay J, 2019, INT J CANCER, V144, P1941, DOI 10.1002/ijc.31937
  12. Fruman DA, 2017, CELL, V170, P605, DOI 10.1016/j.cell.2017.07.029
  13. Gao YB, 2014, NAT GENET, V46, P1097, DOI 10.1038/ng.3076
  14. Hao JJ, 2016, NAT GENET, V48, P1500, DOI 10.1038/ng.3683
  15. Heist L., 2020, EUR J CANCER, DOI [10.1016/S0959-8049(20)31076-5, DOI 10.1016/S0959-8049(20)31076-5]
  16. Hu N, 2016, CANCER RES, V76, P1714, DOI 10.1158/0008-5472.CAN-15-0338
  17. Hull R, 2020, ONCOL LETT, V20, DOI 10.3892/ol.2020.11902
  18. INCA, 2020, EST 2020 INC CANC BR
  19. Islami F, 2009, INT J CANCER, V125, P491, DOI 10.1002/ijc.24445
  20. Kagawa S, 2015, ONCOGENE, V34, P2347, DOI 10.1038/onc.2014.169
  21. Karapetis CS, 2008, NEW ENGL J MED, V359, P1757, DOI 10.1056/NEJMoa0804385
  22. Karczewski KJ, 2020, NATURE, V581, P434, DOI 10.1038/s41586-020-2308-7
  23. Katsonis P, 2014, GENOME RES, V24, P2050, DOI 10.1101/gr.176214.114
  24. Kensler TW, 2007, ANNU REV PHARMACOL, V47, P89, DOI 10.1146/annurev.pharmtox.46.120604.141046
  25. Kim J, 2017, NATURE, V541, P169, DOI 10.1038/nature20805
  26. Koboldt DC, 2012, GENOME RES, V22, P568, DOI 10.1101/gr.129684.111
  27. Lacerda CF, 2017, DIS ESOPHAGUS, V30, DOI 10.1093/dote/dow040
  28. Lin DC, 2014, NAT GENET, V46, P467, DOI 10.1038/ng.2935
  29. MAHBOUBI E, 1973, BRIT J CANCER, V28, P192, DOI 10.1038/bjc.1973.138
  30. McKenna A, 2010, GENOME RES, V20, P1297, DOI 10.1101/gr.107524.110
  31. McLaren W, 2016, GENOME BIOL, V17, DOI 10.1186/s13059-016-0974-4
  32. Molina-Vila MA, 2014, CLIN CANCER RES, V20, P4647, DOI 10.1158/1078-0432.CCR-13-2391
  33. Munari FF, 2018, INFECT AGENTS CANCER, V13, DOI 10.1186/s13027-018-0216-3
  34. Neskey DM, 2015, CANCER RES, V75, P1527, DOI 10.1158/0008-5472.CAN-14-2735
  35. Poeta ML, 2007, NEW ENGL J MED, V357, P2552, DOI 10.1056/NEJMoa073770
  36. Prabhu A, 2014, AM J GASTROENTEROL, V109, P821, DOI 10.1038/ajg.2014.71
  37. Putz A, 2002, INT J CANCER, V98, P99, DOI 10.1002/ijc.10128
  38. Qin HD, 2016, AM J HUM GENET, V98, P709, DOI 10.1016/j.ajhg.2016.02.021
  39. Rossini A, 2010, MUTAT RES-GEN TOX EN, V696, P10, DOI 10.1016/j.mrgentox.2009.11.005
  40. Samuels Y, 2004, SCIENCE, V304, P554, DOI 10.1126/science.1096502
  41. Satoh H, 2013, CANCER RES, V73, P4158, DOI 10.1158/0008-5472.CAN-12-4499
  42. Sawada G, 2016, GASTROENTEROLOGY, V150, P1171, DOI 10.1053/j.gastro.2016.01.035
  43. Song YM, 2014, NATURE, V509, P91, DOI 10.1038/nature13176
  44. Sporn MB, 2012, NAT REV CANCER, V12, P564, DOI 10.1038/nrc3278
  45. Van der Auwera Geraldine A, 2013, Curr Protoc Bioinformatics, V43, DOI [10.1002/0471250953.bi1201s43, 10.1002/0471250953.bi1110s43]
  46. Tamborero D, 2018, GENOME MED, V10, DOI 10.1186/s13073-018-0531-8
  47. Tirumani H, 2015, CAN ASSOC RADIOL J, V66, P130, DOI 10.1016/j.carj.2014.08.006
  48. Wang XJ, 2008, CARCINOGENESIS, V29, P1235, DOI 10.1093/carcin/bgn095
  49. Winer E, 2009, J CLIN ONCOL, V27, P812, DOI 10.1200/JCO.2008.21.2134
  50. Wu SG, 2016, SCI REP-UK, V6, DOI 10.1038/srep28280
  51. Zhang L, 2016, EXPERT REV GASTROENT, V10, P595, DOI 10.1586/17474124.2016.1140036
  52. Zhang L, 2015, AM J HUM GENET, V96, P597, DOI 10.1016/j.ajhg.2015.02.017

Coleções
Artigos e Materiais de Revistas Científicas - FM/Outros
Artigos e Materiais de Revistas Científicas - LIM/14
Artigos e Materiais de Revistas Científicas - ODS/03