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https://hdl.handle.net/1822/67204
Título: | Mutation profling of cancer drivers in Brazilian colorectal cancer |
Autor(es): | Santos, Wellington dos Sobanski, Thais Carvalho, Ana Carolina de Evangelista, Adriane Feijó Matsushita, Marcus Berardinelli, Gustavo Nóriz Oliveira, Marco Antonio de Reis, R. M. Guimarães, Denise Peixoto |
Data: | 2019 |
Editora: | Nature Publishing Group |
Revista: | Scientific Reports |
Resumo(s): | The molecular basis of colorectal cancer (CRC) can guide patient prognosis and therapy. In Brazil, knowledge on the CRC mutation landscape is limited. Here, we investigated the mutation profile of 150 cancer-related genes by next-generation sequencing and associated with microsatellite instability (MSI) and genetic ancestry in a series of 91 Brazilian CRC patients. Driver mutations were found in the APC (71.4%), TP53 (56.0%), KRAS (52.7%), PIK3CA (15.4%) and FBXW7 (10.9%) genes. Overall, genes in the MAPK/ERK, PIK3/AKT, NOTCH and receptor tyrosine kinase signaling pathways were mutated in 68.0%, 23.1%, 16.5%, and 15.3% of patients, respectively. MSI was found in 13.3% of tumors, most of which were proximal (52.4%, P< 0.001) and had a high mutation burden. European genetic ancestry was predominant (median of 83.1%), followed by Native American (4.1%), Asian (3.4%) and African (3.2%). NF1 and BRAF mutations were associated with African ancestry, while TP53 and PIK3CA mutations were inversely correlated with Native American ancestry. Our study suggests that Brazilian CRC patients exhibit a mutation profile similar to other populations and identify the most frequently mutated genes, which could be useful in future target therapies and molecular cancer screening strategies. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67204 |
DOI: | 10.1038/s41598-019-49611-1 |
ISSN: | 2045-2322 |
e-ISSN: | 2045-2322 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Dos-santos-2019-Mutation-profiling-of-cancer-driver.pdf | 4,22 MB | Adobe PDF | Ver/Abrir |