ArticleEuropean journal of human genetics : EJHG2022
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 46 citations in OpenAlex.
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- Single-Cell Transcriptomic Landscape of Right-Sided Colon Cancer Reveals Cellular and Molecular Features of Metastatic Potential.Biomedicines · 2026Article
- Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.Animal models and experimental medicine · 2025Article
- A CT-based deep learning for segmenting tumors and predicting microsatellite instability in patients with colorectal cancers: a multicenter cohort study.La Radiologia medica · 2025Article
- Expression of programmed cell death ligand 1 protein and other biomarkers in patients with gastric cancer and gastroesophageal junction cancer: a retrospective single centre study in Brazil.Frontiers in oncology · 2025Article
- Pan-tumor validation of a NGS fraction-based MSI analysis as a predictor of response to Pembrolizumab.NPJ precision oncology · 2024Article
- Immune-checkpoint gene expression and BCG response in non-muscle invasive bladder cancer.Translational oncology · 2024Article
- A pan-cancer analysis of the core pre-mRNA 3' end processing factors, and their association with prognosis, tumor microenvironment, and potential targets.Scientific reports · 2024Article
- Establishment and molecular characterization of HCB-541, a novel and aggressive human cutaneous squamous cell carcinoma cell line.Human cell · 2024Article
- Implementation of the ProMisE classifier and validation of its prognostic impact in Brazilian endometrial carcinomas.Frontiers in oncology · 2024Article
- Biomarkers for Immune Checkpoint Inhibitor Response in NSCLC: Current Developments and Applicability.International journal of molecular sciences · 2023Review
- Digital expression profile of immune checkpoint genes in medulloblastomas identifies CD24 and CD276 as putative immunotherapy targets.Frontiers in immunology · 2023Article
- Ancestry and self-reported race in Brazilian breast cancer women.Revista da Associacao Medica Brasileira (1992) · 2023Observational
- Microsatellite instability in gastrointestinal cancers.European journal of human genetics : EJHG · 2022Article
- Cutaneous and acral melanoma cross-OMICs reveals prognostic cancer drivers associated with pathobiology and ultraviolet exposure.Nature communications · 2022Article
- Clinical genomics testing: mainstreaming and globalising.European journal of human genetics : EJHG · 2022Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Colorectal cancer (CRC) has a high incidence and mortality worldwide. Microsatellite instability (MSI) is crucial in CRC, with distinct molecular and clinicopathological features in patients. Nowadays, it is a predictive marker for immunotherapy. We proposed to evaluate the 5-year outcome of MSI status in 1002 Brazilian CRC, and associate it with genetic ancestry, molecular and clinicopathological features. MSI evaluation was performed using molecular markers. MSI+ tumors were analyzed for alterations in 23 MSI-targeted genes. Genetic ancestry was evaluated using an Ancestry-Informative markers panel. MSI status was analyzed in relation to CRC specific survival and other clinical and genetic variables. MSI+ status was observed in 10.5% of cases. MSI+ status was significantly associated with the anatomic site right colon, mucinous histological type, clinical stage II, histological grade III/undifferentiated, no recurrence of disease, and live cases without cancer. No association of MSI status with genetic ancestry components was observed. MSI-targeted genes analyses showed the most frequently altered genes: ATM, EGFR, MRE11, ROCK1, and TGFBRII. There was a statistically significant difference in cancer-specific survival between cases according to MSI status. This study constitutes the most comprehensive analyses of the MSI impact on the Brazilian CRC. MSI+ frequency in Brazilian CRC agreed with the literature and was associated with several clinicopathological features related with less aggressive tumors, independently of their genetic ancestry.
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