ReviewSao Paulo medical journal = Revista paulista de medicina2009
Mismatch repair genes in Lynch syndrome: a review.
Review in Sao Paulo medical journal = Revista paulista de medicina, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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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.
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Who cites it
39 citing papers in PubMed.
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.PloS one · 2026Article
- Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome.Journal of personalized medicine · 2025Article
- Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients.Hereditary cancer in clinical practice · 2025Article
- Deficient Mismatch Repair and Microsatellite Instability in Solid Tumors.International journal of molecular sciences · 2025Review
- A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review.Frontiers in genetics · 2025Article
- A Novel Mutation ofJournal of clinical medicine · 2023Article
- First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report.Frontiers in oncology · 2023Article
- Genomic and transcriptomic analyses reveal a tandem amplification unit of 11 genes and mutations in mismatch repair genes in methotrexate-resistant HT-29 cells.Experimental & molecular medicine · 2021Article
- Immunology of Lynch Syndrome.Current oncology reports · 2021Review
- Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.BMC cancer · 2021Article
- Lynch syndrome or hereditary non polyposis colorectal cancer (HNPCC) in a moroccan family: Case report.Annals of medicine and surgery (2012) · 2021Article
- Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.Cancer communications (London, England) · 2020Article
- An overview of yeast probiotics as cancer biotherapeutics: possible clinical application in colorectal cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.Frontiers in pediatrics · 2020Review
- Review
- The Need for Multi-Omics Biomarker Signatures in Precision Medicine.International journal of molecular sciences · 2019Review
- A new mutL homolog 1 c.1896+5G>A germline mutation detected in a Lynch syndrome-associated lung and gastric double primary cancer patient.Molecular genetics & genomic medicine · 2019Article
- Prevalence and spectrum ofHereditary cancer in clinical practice · 2019Article
- Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies.Oncotarget · 2018Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog 2 (MSH2); mutL homolog 1 (MLH1); mutS homolog 6 (MSH6); postmeiotic segregation increased 2 (PMS2); and postmeiotic segregation increased 1 (PMS1). It has been proposed that one additional mismatch repair gene, mutL homolog 3 (MLH3), also plays a role in Lynch syndrome predisposition, but the clinical significance of mutations in this gene is less clear. According to the InSiGHT database (International Society for Gastrointestinal Hereditary Tumors), approximately 500 different LS-associated mismatch repair gene mutations are known, primarily involving MLH1 (50%) and MSH2 (40%), while others account for 10%. Much progress has been made in understanding the molecular basis of Lynch Syndrome. Molecular characterization will be the most accurate way of defining Lynch syndrome and will provide predictive information of greater accuracy regarding the risks of colon and extracolonic cancer and enable optimal cancer surveillance regimens.
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