ArticleHuman mutation2013
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 39 citations in OpenAlex.
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- Article
- This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency.ESMO gastrointestinal oncology · 2024Article
- PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.Hereditary cancer in clinical practice · 2024Article
- A Comprehensive Analysis of the Effect of A>I(G) RNA-Editing Sites on Genotoxic Drug Response and Progression in Breast Cancer.Biomedicines · 2024Article
- Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.BMC medical genomics · 2023Article
- Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.Human mutation · 2022Article
- PMS2 variant results in loss of ATPase activity without compromising mismatch repair.Molecular genetics & genomic medicine · 2022Article
- Review
- Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.NPJ genomic medicine · 2021Article
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.Human mutation · 2019Article
- Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.The Journal of pathology · 2019Review
- The changing landscape of Lynch syndrome due to PMS2 mutations.Clinical genetics · 2018Review
- Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Familial cancer · 2017Article
- The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Lynch syndrome (LS) is a common cancer predisposition caused by an inactivating mutation in one of four DNA mismatch repair (MMR) genes. Frequently a variant of uncertain significance (VUS), rather than an obviously pathogenic mutation, is identified in one of these genes. The inability to define pathogenicity of such variants precludes targeted healthcare. Here, we have modified a cell-free assay to test VUS in the MMR gene PMS2 for functional activity. We have analyzed nearly all VUS in PMS2 found thus far and describe loss of MMR activity for five, suggesting the applicability of the assay for diagnosis of LS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.