ReviewDiagnostics (Basel, Switzerland)2020
Diagnostics of Mutations in MMR/
Review in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Exploring the Clinical Landscape of Long Non-coding RNAs in Cancer Diagnosis and Therapy.Biochemical genetics · 2026Review
- Double Trouble: EPCAM Exon 9 Deletion in Lynch Syndrome Leading to Dual Primary Tumors.Cureus · 2026Article
- Lynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era.Cancers · 2026Review
- Molecular Profiling of Germline Variants in the DNA Mismatch Repair Genes in Chinese Colorectal Cancer Patients.Genetics research · 2026Article
- The Application of the NGS and MLPA Methods in the Molecular Diagnostics of Lynch Syndrome.Diagnostics (Basel, Switzerland) · 2025Article
- Traditional and New Views on MSI-H/dMMR Endometrial Cancer.Biomolecules · 2025Review
- Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.Diagnostics (Basel, Switzerland) · 2025Review
- Pseudogenes in the carcinogenesis: epithelial-to-mesenchymal transition process and cancer initiating cells.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2025Review
- Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.Frontiers in oncology · 2025Article
- Germline mismatch repair gene mutations in children with tumors: a case series from two centers.Translational pediatrics · 2024Article
- Minimal residual disease monitoring via ctDNA: a case report of Lynch syndrome with synchronous colorectal cancer and review of literature.Journal of gastrointestinal oncology · 2024Article
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Diagnostic and prognostic assessments of adrenocortical carcinomas by pathological features, immunohistochemical markers and reticular histochemistry staining.Diagnostic pathology · 2024Article
- Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother.Frontiers in medicine · 2024Article
- Review
- Prediction of hereditary nonpolyposis colorectal cancer using mRNAWorld journal of gastrointestinal pathophysiology · 2021Article
- Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.Hereditary cancer in clinical practice · 2021Review
- Tumour-Agnostic Therapy for Pancreatic Cancer and Biliary Tract Cancer.Diagnostics (Basel, Switzerland) · 2021Review
- Lynch Syndrome: Its Impact on Urothelial Carcinoma.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a disorder caused by an autosomal dominant heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes. Individuals with LS are at an increased risk of developing colorectal and extracolonic cancers, such as endometrial, small bowel, or ovarian. In this review, the mutations involved with LS and their diagnostic methods are described and compared, as are their current uses in clinical decision making. Nowadays, LS diagnosis is based on a review of family medical history, and when necessary, microsatellite instability (MSI) or/and immunohistochemistry (IHC) analyses should be performed. In the case of a lack of MMR protein expression (dMMR) or MSI-H (MSI-High) detection in tumor tissue, molecular genetic testing can be undertaken. More and more genetic testing for LS is based mainly on next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA), which provide better and quicker information about the molecular profile of patients as well as individuals at risk. Testing based on these two methods should be the standard and commonly used. The identification of individuals with mutations provides opportunities for the detection of cancer at an early stage as well as the introduction of proper, more effective treatment, which will result in increased patient survival and reduced costs of medical care.
Indexed as
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What OpenQuestion holds
Registered trials
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.