ArticleFrontiers of medicine2020
Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit.
Article in Frontiers of medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Evaluation of genetic instability of short tandem repeats in hepatocellular carcinoma.Scientific reports · 2025Article
- Solution to a case involving the interpretation of trace degraded DNA mixtures.International journal of legal medicine · 2024Article
- Human complex mixture analysis by "FD Multi-SNP Mixture Kit".Frontiers in genetics · 2024Article
- Effect of Carcinomas on Autosomal Trait Screening: A Review Article.Current issues in molecular biology · 2023Review
- Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system.Forensic sciences research · 2022Article
- Opportunity of Next-Generation Sequencing-Based Short Tandem Repeat System for Tumor Source Identification.Frontiers in oncology · 2022Article
- Research progress on application of microhaplotype in forensic genetics.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Review
- Investigation of an Alternative Marker for Hypermutability Evaluation in Different Tumors.Genes · 2021Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inhibitors. However, biomarker-matched trials are still limited, and many of the genomic alterations remain difficult to target. To isolate the potential somatic hypermutational tumor from microsatellite instability low/microsatellite stability (MSI-L/MSS) cases, we employed two commercial kits to determine MSI and forensic short tandem repeat (STR) alternations in 250 gastrointestinal (GI) tumors. Three types of forensic STR alternations, namely, allelic loss, Aadd, and Anew, were identified. 62.4% (156/250) of the patients with GI exhibited STR alternation, including 100% (15/15) and 60% (141/235) of the microsatellite high instability and MSI-L/MSS cases, respectively. 30% (75/250) of the patients exhibited STR instability with more than 26.32% (26.32%-84.21%) STR alternation. The cutoff with 26.32% of the STR alternations covered all 15 MSI cases and suggested that it might be a potential threshold. Given the similar mechanism of the mutations of MSI and forensic STR, the widely used forensic identifier STR kit might provide potential usage for identifying hypermutational status in GI cancers.
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