ReviewInternational journal of clinical oncology2019
Current clinical topics of 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. Cited by 17 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Optimizing surveillance in Lynch syndrome: lesion detection and comparative performance of different colonoscopy modalities-a systematic review and network meta-analysis.International journal of colorectal disease · 2025Pooled it
- Hereditary colorectal cancer syndromes and inflammatory bowel disease: results from a registry-based study.International journal of colorectal disease · 2025Article
- High risk of multiple gastric cancers in Japanese individuals with Lynch syndrome.Annals of gastroenterological surgery · 2024Article
- Colorectal cancer and advanced adenoma characteristics according to causative mismatch repair gene variant in Japanese colorectal surveillance for Lynch syndrome.Journal of gastroenterology · 2024Article
- Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine Society · 2024Article
- Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.Genes · 2023Article
- Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.Hereditary cancer in clinical practice · 2023Review
- Two Cases of Thymic Cancer in Patients with Lynch Syndrome.Internal medicine (Tokyo, Japan) · 2023Article
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Risk of first onset of colorectal cancer associated with alcohol consumption in Lynch syndrome: a multicenter cohort study.International journal of clinical oncology · 2022Article
- Hereditary Gynecologic Cancer Syndromes - A Narrative Review.OncoTargets and therapy · 2022Review
- Screening of Lynch syndrome in endometrial cancer in Iranian population with mismatch repair protein by immunohistochemistry.Caspian journal of internal medicine · 2022Article
- Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.Frontiers in oncology · 2022Article
- Lynch syndrome-associated repeated stroke with MLH1 frame-shift mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report.BMC medical genetics · 2020Article
- Mismatch Repair Pathway, Genome Stability and Cancer.Frontiers in molecular biosciences · 2020Review
- Introduction: Lynch syndrome-its molecular mechanism and current topics.International journal of clinical oncology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general population. This autosomal dominant disease is caused by a germline variant in one of the four mismatch repair genes, MSH2, MLH1, MSH6, PMS2, or the EPCAM gene. LS develops at early ages in colorectal cancer (CRC), endometrial cancer, and various other associated tumors. Accurate diagnosis of LS and utilization of various risk-reduction strategies such as surveillance, prophylactic surgery, and chemoprevention could improve clinical outcomes. The efficacy of surveillance has only been proven for CRC; however, specialists have proposed surveillance for other LS associated tumors. Universal screening for tumor tissue using microsatellite instability testing or the mismatch repair protein immunochemistry in all CRC or endometrial cancers is recommended not only as a diagnostic tool for LS, but also as a predictive, prognostic, and therapeutic marker. Next-generation sequencing methods have revealed several conditions with phenotypes similar to LS, such as Lynch-like syndrome, constitutional mismatch repair deficiency syndrome, and polymerase proofreading-associated polyposis. Distinguishing LS from these similar conditions is clinically important, since clinical management for patients differs according to the conditions. Recently, immune checkpoint inhibitors have been shown to be a promising treatment against mismatch repair-deficient (dMMR) solid tumors. The efficacy of immune-checkpoint inhibitors in LS-associated tumors has been shown to be similar to that in sporadic dMMR tumors. This review discusses current clinical topics related to LS screening, diagnosis, surveillance, and therapy.
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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.