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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

ABSTRACT: 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

SUBMITTER: Dos Santos W

PROVIDER: S-EPMC6757044 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos Wellington W Sobanski Thais T de Carvalho Ana Carolina AC Evangelista Adriane Feijó AF Matsushita Marcus M Berardinelli Gustavo Nóriz GN de Oliveira Marco Antonio MA Reis Rui Manuel RM Guimarães Denise Peixoto DP

Scientific reports 20190923 1

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 i ...[more]

PMID: 31548566

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