ReviewInternational journal of clinical oncology2019
Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome.
Review in International journal of clinical oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers, 1 of them a synthesis that pooled it.
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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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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.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Validity of a two-antibody testing algorithm for mismatch repair deficiency testing in cancer; a systematic literature review and meta-analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Pooled it
- Prognostic Stratification of Multiple-Classifier Endometrial Cancers: Cohort Study and Meta-Analysis.Cancers · 2026Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Strategy for early diagnosis of pancreatic cancer.Frontiers in gastroenterology (Lausanne, Switzerland) · 2026Review
- MLH1 and MSH2 expression in endometrial cancer - microscopic and computer assessment of immunohistochemical method.Histology and histopathology · 2025Article
- Coexisting germline variants ofInternational cancer conference journal · 2025Article
- Ionizing Radiation May Induce Tumors Partly Through the Alteration or Regulation of Mismatch Repair Genes.Cancers · 2025Review
- Hereditary colorectal cancer syndromes and inflammatory bowel disease: results from a registry-based study.International journal of colorectal disease · 2025Article
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
- Microsatellite Instability in Urine: Breakthrough Method for Bladder Cancer Identification.Biomedicines · 2024Review
- Simplifying Mismatch Repair Deficiency Screening in Endometrial Adenocarcinoma: Immunohistochemistry with Two-Antibody Panel (PMS2 and MSH6).Asian Pacific journal of cancer prevention : APJCP · 2024Article
- A pilot study on the detection of microsatellite instability using long mononucleotide repeats in solid tumors.Oncology letters · 2024Article
- Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.Heliyon · 2024Review
- The ubiquitin ligase UBR4 and the deubiquitylase USP5 modulate the stability of DNA mismatch repair protein MLH1.The Journal of biological chemistry · 2024Article
- Article
- A case report: Gliosarcoma associated with a germline heterozygous mutation inFrontiers in neurology · 2024Article
- Diffusion kurtosis imaging with multiple quantitative parameters for predicting microsatellite instability status of endometrial carcinoma.Abdominal radiology (New York) · 2023Article
- Review
- Article
- Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.The EPMA journal · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1, MSH2, MSH6, and PMS2) encoding mismatch repair proteins. Being located immediately upstream of the MSH2 gene, EPCAM abnormalities can affect MSH2 and cause Lynch syndrome. Mismatch repair proteins are involved in repairing of incorrect pairing (point mutations and deletion/insertion of simple repetitive sequences, so-called microsatellites) that can arise during DNA replication. MSH2 forms heterodimers with MSH6 or MSH3 (MutSα, MutSβ, respectively) and is involved in mismatch-pair recognition and initiation of repair. MLH1 forms a complex with PMS2, and functions as an endonuclease. If the mismatch repair system is thoroughly working, genome integrity is maintained completely. Lynch syndrome is a state of mismatch repair deficiency due to a monoallelic abnormality of any mismatch repair genes. The phenotype indicating the mismatch repair deficiency can be frequently shown as a microsatellite instability in tumors. Children with germline biallelic mismatch repair gene abnormalities were reported to develop conditions such as gastrointestinal polyposis, colorectal cancer, brain cancer, leukemia, etc., and so on, demonstrating the need to respond with new concepts in genetic counseling. In promoting cancer genome medicine in a new era, such as by utilizing immune checkpoints, it is important to understand the genetic and genomic molecular background, including the status of mismatch repair deficiency.
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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.