ArticleFamilial cancer2013
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.
Article in Familial cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.Genome biology · 2022Article
- Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.Advanced genetics (Hoboken, N.J.) · 2021Article
- Article
- Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.Familial cancer · 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
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.Cancer biology & therapy · 2017Article
- Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Molecular genetics & genomic medicine · 2015Article
- Article
- Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?BioMed research international · 2015Review
- The evolution of colorectal cancer genetics-Part 1: from discovery to practice.Journal of gastrointestinal oncology · 2014Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance (VUS). In contrast to clearly pathogenic mutations, VUS do not firmly diagnose Lynch syndrome at the molecular level and cannot be used to identify with certainty any of the patients' asymptomatic relatives as Lynch syndrome mutation carriers. The International database that collects MMR gene variants ( www.insight-group.org/mutations ) already lists more than 1,000 different VUSs and these variants are likely the tip of the iceberg. This paper aims at introducing non-geneticist clinicians to the topic of clinical MMR gene variant interpretation. Many lines of evidence are being used to classify VUS. Some are already familiar to clinicians and others may be less familiar but are expected to become important in clinical genetics in the coming years. Clinicians can play an important role in collecting the data needed to interpret the MMR variants detected in their patients.
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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.