ArticleEuropean journal of human genetics : EJHG2014
Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Microsatellite instability in penile cancer: comparative analysis of primary tumors and metastases.Frontiers in urology · 2026Article
- Human Epidermal Growth Factor Receptor 2 [HER-2/neu] Amplification and Microsatellite Stable Status in Gastric and Gastroesophageal Adenocarcinoma: Assessing Frequency and Prognostic Implications at the Cancer Institute of Iran.Cancer reports (Hoboken, N.J.) · 2025Article
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- Implementation of the ProMisE classifier and validation of its prognostic impact in Brazilian endometrial carcinomas.Frontiers in oncology · 2024Article
- Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types.Cancer medicine · 2023Article
- Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.Cold Spring Harbor molecular case studies · 2023Article
- 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
- High Frequency of Microsatellite Instability among Non-Metastatic Gastric Cancer.International journal of hematology-oncology and stem cell research · 2022Article
- Helicobacter pylori Modulated Host Immunity in Gastric Cancer Patients With S-1 Adjuvant Chemotherapy.Journal of the National Cancer Institute · 2022Article
- Microsatellite Instability: From the Implementation of the Detection to a Prognostic and Predictive Role in Cancers.International journal of molecular sciences · 2022Review
- Cancer immune profiling unveils biomarkers, immunological pathways, and cell type score associated with glioblastoma patients' survival.Therapeutic advances in medical oncology · 2022Article
- Improved NGS-based detection of microsatellite instability using tumor-only data.Frontiers in oncology · 2022Article
- Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma.Scientific reports · 2020Article
- Clinical characteristics and responses to chemotherapy and immune checkpoint inhibitor treatment for microsatellite instability gastric cancer.American journal of cancer research · 2020Review
- Evaluation of Concordance Between Deficient Mismatch Repair and Microsatellite Instability Testing and Their Association with Clinicopathological Features in Colorectal Cancer.Cancer management and research · 2020Article
- Role of Genetic Ancestry in 1,002 Brazilian Colorectal Cancer Patients From Barretos Cancer Hospital.Frontiers in oncology · 2020Article
- Tumor immune response and immunotherapy in gastric cancer.Journal of pathology and translational medicine · 2020Review
- The Brazilian TP53 mutation (R337H) and sarcomas.PloS one · 2020Article
- Mutational Profile of Driver Genes in Brazilian Melanomas.Journal of global oncology · 2019Article
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Authors and funding
7 authors.
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Abstract
Microsatellite instability (MSI) testing has been advocated for all newly diagnosed colorectal cancer patients. One of the most common tests is composed by a pentaplex panel of mononucleotides markers (NR-27, NR-21, NR-24, BAT-25, and BAT-26), which allows the analysis of MSI in tumors without the need of reference DNA. For that, it is fundamental to establish a quasi-monomorphic variation range (QMVR) for each marker. Herein, we aimed to establish the QMVR in a Brazilian healthy population, to evaluate the feasibility of MSI determination of tumors, without the matching normal DNA. Furthermore, we intend to assess their ancestry using specific ancestry-informative markers (AIMs) and correlate with QMVR. The QMVR was assessed in 214 individuals, through a pentaplex PCR followed by fragment analysis. The ancestry analysis was done by 46 AIMs in a single multiplex PCR followed by capillary electrophoresis. Following QMVR establishment, we observed 23 individuals with alleles outside the QMVR. Importantly, none of them exhibited more than one marker outside the range. Therefore, individuals with instability at ≥2 markers would be accurately classified as MSI. The European ancestry proportion was the most frequent (67.5%), followed by the African (19.6%). The comparison of the individuals with alleles within (n=191) and outside (n=23) the QMVR showed statistical difference in the proportions of European and African alleles, confirming the higher polymorphic nature of African ancestry. In conclusion, the present study reports an accurate methodology to assess MSI status without matched-normal DNA and independently of the ethnicity, even in the highly admixed population of Brazil.
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