ArticleScientific reports2019
Mutation profiling of cancer drivers in Brazilian colorectal cancer.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Microsatellite instability and mismatch repair deficiency prevalence among Hispanic/Latino individuals with colorectal cancer: a systematic review and meta-analysis.International journal of colorectal disease · 2026Pooled it
- Analysis of PIK3CA mutation prevalence variation among colorectal cancer populations: a comprehensive review.Molecular biology reports · 2025Pooled it
- Racial disparities in colorectal cancer clinicopathological and molecular tumor characteristics: a systematic review.Cancer causes & control : CCC · 2024Pooled it
- Molecular Characterization ofCancers · 2026Article
- Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.Human genomics · 2025Article
- Identification of genomic variants associated with colorectal cancer heredity in indigenous populations of the Amazon.Scientific reports · 2025Article
- Regional and Gender-Based Distribution of KRAS Mutations in Metastatic Colorectal Cancer Patients in Turkey: An Observational Study.Medicina (Kaunas, Lithuania) · 2025Observational
- Plasma mutation profile of precursor lesions and colorectal cancer using the Oncomine Colon cfDNA Assay.BMC cancer · 2024Article
- Integrated molecular profiling ofJournal of gastrointestinal oncology · 2024Article
- Genomic ancestry and cancer among Latin Americans.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Review
- Article
- Distinct Driver Pathway Enrichments and a High Prevalence ofInternational journal of molecular sciences · 2024Article
- Association ofCurrent issues in molecular biology · 2024Article
- Article
- Current landscape of BRAF-V600E metastatic CRC management in Latin America: an expert Latin American panel's recommendations.Ecancermedicalscience · 2024Review
- Article
- Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.Cancer medicine · 2023Article
- Article
- Proteomic analysis of low- and high-grade human colon adenocarcinoma tissues and tissue-derived primary cell lines reveals unique biological functions of tumours and new protein biomarker candidates.Clinical proteomics · 2022Article
- The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer.South Asian journal of cancer · 2022Article
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Authors and funding
9 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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< 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.
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