ArticlePloS one2018
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.Clinical and experimental dermatology · 2025Article
- Article
- A novel colorectal cancer test combining microsatellite instability andBJC reports · 2024Article
- Detecting Microsatellite Instability in Endometrial, Colon, and Stomach Cancers Using Targeted NGS.Cancers · 2023Article
- Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.The EPMA journal · 2023Review
- Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.Frontiers in oncology · 2023Article
- Article
- An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Assessment of Microsatellite Instability from Next-Generation Sequencing Data.Advances in experimental medicine and biology · 2022Article
- Detection of Microsatellite Instability: State of the Art and Future Applications in Circulating Tumour DNA (ctDNA).Cancers · 2021Review
- Harveian Oration 2019: Prediction and prevention in the genomic era.Clinical medicine (London, England) · 2020Article
- Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.Human mutation · 2020Article
- Current Update of Laboratory Molecular Diagnostics Advancement in Management of Colorectal Cancer (CRC).Diagnostics (Basel, Switzerland) · 2019Review
- A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.Human mutation · 2019Article
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Authors and funding
18 authors.
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Abstract
Somatic mutations in mononucleotide repeats are commonly used to assess the mismatch repair status of tumours. Current tests focus on repeats with a length above 15bp, which tend to be somatically more unstable than shorter ones. These longer repeats also have a substantially higher PCR error rate, and tests that use capillary electrophoresis for fragment size analysis often require expert interpretation. In this communication, we present a panel of 17 short repeats (length 7-12bp) for sequence-based microsatellite instability (MSI) testing. Using a simple scoring procedure that incorporates the allelic distribution of the mutant repeats, and analysis of two cohort of tumours totalling 209 samples, we show that this panel is able to discriminate between MMR proficient and deficient tumours, even when constitutional DNA is not available. In the training cohort, the method achieved 100% concordance with fragment analysis, while in the testing cohort, 4 discordant samples were observed (corresponding to 97% concordance). Of these, 2 showed discrepancies between fragment analysis and immunohistochemistry and one was reclassified after re-testing using fragment analysis. These results indicate that our approach offers the option of a reliable, scalable routine test for MSI.
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