Profile of esophageal squamous cell carcinoma mutations in Brazilian patients
Carregando...
Citações na Scopus
2
Tipo de produção
article
Data de publicação
2021
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
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
Referências
- Abnet CC, 2018, GASTROENTEROLOGY, V154, P360, DOI 10.1053/j.gastro.2017.08.023
- Alqahtani A, 2020, CANCERS, V12, DOI 10.3390/cancers12010093
- Bray F, 2018, CA-CANCER J CLIN, V68, P394, DOI 10.3322/caac.21492
- Canon J, 2019, NATURE, V575, P217, DOI 10.1038/s41586-019-1694-1
- Chen XX, 2017, NAT COMMUN, V8, DOI 10.1038/s41467-017-00650-0
- Cheng CX, 2016, AM J HUM GENET, V98, P256, DOI 10.1016/j.ajhg.2015.12.013
- Cibulskis K, 2013, NAT BIOTECHNOL, V31, P213, DOI 10.1038/nbt.2514
- Deng JY, 2017, NAT COMMUN, V8, DOI 10.1038/s41467-017-01730-x
- dos Santos W, 2019, SCI REP-UK, V9, DOI 10.1038/s41598-019-49611-1
- Du PN, 2017, SCI REP-UK, V7, DOI 10.1038/s41598-017-14909-5
- Ferlay J, 2019, INT J CANCER, V144, P1941, DOI 10.1002/ijc.31937
- Fruman DA, 2017, CELL, V170, P605, DOI 10.1016/j.cell.2017.07.029
- Gao YB, 2014, NAT GENET, V46, P1097, DOI 10.1038/ng.3076
- Hao JJ, 2016, NAT GENET, V48, P1500, DOI 10.1038/ng.3683
- Heist L., 2020, EUR J CANCER, DOI [10.1016/S0959-8049(20)31076-5, DOI 10.1016/S0959-8049(20)31076-5]
- Hu N, 2016, CANCER RES, V76, P1714, DOI 10.1158/0008-5472.CAN-15-0338
- Hull R, 2020, ONCOL LETT, V20, DOI 10.3892/ol.2020.11902
- INCA, 2020, EST 2020 INC CANC BR
- Islami F, 2009, INT J CANCER, V125, P491, DOI 10.1002/ijc.24445
- Kagawa S, 2015, ONCOGENE, V34, P2347, DOI 10.1038/onc.2014.169
- Karapetis CS, 2008, NEW ENGL J MED, V359, P1757, DOI 10.1056/NEJMoa0804385
- Karczewski KJ, 2020, NATURE, V581, P434, DOI 10.1038/s41586-020-2308-7
- Katsonis P, 2014, GENOME RES, V24, P2050, DOI 10.1101/gr.176214.114
- Kensler TW, 2007, ANNU REV PHARMACOL, V47, P89, DOI 10.1146/annurev.pharmtox.46.120604.141046
- Kim J, 2017, NATURE, V541, P169, DOI 10.1038/nature20805
- Koboldt DC, 2012, GENOME RES, V22, P568, DOI 10.1101/gr.129684.111
- Lacerda CF, 2017, DIS ESOPHAGUS, V30, DOI 10.1093/dote/dow040
- Lin DC, 2014, NAT GENET, V46, P467, DOI 10.1038/ng.2935
- MAHBOUBI E, 1973, BRIT J CANCER, V28, P192, DOI 10.1038/bjc.1973.138
- McKenna A, 2010, GENOME RES, V20, P1297, DOI 10.1101/gr.107524.110
- McLaren W, 2016, GENOME BIOL, V17, DOI 10.1186/s13059-016-0974-4
- Molina-Vila MA, 2014, CLIN CANCER RES, V20, P4647, DOI 10.1158/1078-0432.CCR-13-2391
- Munari FF, 2018, INFECT AGENTS CANCER, V13, DOI 10.1186/s13027-018-0216-3
- Neskey DM, 2015, CANCER RES, V75, P1527, DOI 10.1158/0008-5472.CAN-14-2735
- Poeta ML, 2007, NEW ENGL J MED, V357, P2552, DOI 10.1056/NEJMoa073770
- Prabhu A, 2014, AM J GASTROENTEROL, V109, P821, DOI 10.1038/ajg.2014.71
- Putz A, 2002, INT J CANCER, V98, P99, DOI 10.1002/ijc.10128
- Qin HD, 2016, AM J HUM GENET, V98, P709, DOI 10.1016/j.ajhg.2016.02.021
- Rossini A, 2010, MUTAT RES-GEN TOX EN, V696, P10, DOI 10.1016/j.mrgentox.2009.11.005
- Samuels Y, 2004, SCIENCE, V304, P554, DOI 10.1126/science.1096502
- Satoh H, 2013, CANCER RES, V73, P4158, DOI 10.1158/0008-5472.CAN-12-4499
- Sawada G, 2016, GASTROENTEROLOGY, V150, P1171, DOI 10.1053/j.gastro.2016.01.035
- Song YM, 2014, NATURE, V509, P91, DOI 10.1038/nature13176
- Sporn MB, 2012, NAT REV CANCER, V12, P564, DOI 10.1038/nrc3278
- Van der Auwera Geraldine A, 2013, Curr Protoc Bioinformatics, V43, DOI [10.1002/0471250953.bi1201s43, 10.1002/0471250953.bi1110s43]
- Tamborero D, 2018, GENOME MED, V10, DOI 10.1186/s13073-018-0531-8
- Tirumani H, 2015, CAN ASSOC RADIOL J, V66, P130, DOI 10.1016/j.carj.2014.08.006
- Wang XJ, 2008, CARCINOGENESIS, V29, P1235, DOI 10.1093/carcin/bgn095
- Winer E, 2009, J CLIN ONCOL, V27, P812, DOI 10.1200/JCO.2008.21.2134
- Wu SG, 2016, SCI REP-UK, V6, DOI 10.1038/srep28280
- Zhang L, 2016, EXPERT REV GASTROENT, V10, P595, DOI 10.1586/17474124.2016.1140036
- Zhang L, 2015, AM J HUM GENET, V96, P597, DOI 10.1016/j.ajhg.2015.02.017