ReviewHereditary cancer in clinical practice2023
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.
Review in Hereditary cancer in clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Universal Tumor Screening in Colorectal Cancer: Role of MMR Immunohistochemistry for Lynch Syndrome and Early-Onset CRC.Cancers · 2026Article
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.International journal of molecular sciences · 2026Review
- Genomic innovations in cancer prevention, diagnosis, prognosis and precision therapeutics.Frontiers in genetics · 2026Review
- Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.Cancer research and treatment · 2026Article
- Rectifying referrals: genetics testing is underutilized in rectal cancer patient care.Proceedings (Baylor University. Medical Center) · 2026Article
- Cost-Utility Analysis of Universal Lynch Syndrome Screening among Colorectal Cancer Patients in a Low-Middle-Income Country.Yonsei medical journal · 2025Article
- Incidence of non-colorectal/endometrial malignancies in individuals with Lynch syndrome: a retrospective cohort study.EClinicalMedicine · 2025Article
- Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.Communications medicine · 2025Article
- Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.Global medical genetics · 2025Article
- Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.Health science reports · 2025Article
- Genomics and integrative clinical data machine learning scoring model to ascertain likely Lynch syndrome patients.BJC reports · 2025Article
- Comparison of PREMM5 and PREMMplus Risk Assessment Models to Identify Lynch Syndrome.JCO precision oncology · 2025Article
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history. MAIN BODY: Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the affected gene and probably of the variant. Patients with variants in low-penetrance genes have a lower risk of developing a cancer associated with LS, leading to families with unaffected generations and showing fewer clear patterns. This study focuses on describing genetic aspects of LS cases that underlie the lack of sensitivity of the clinical criteria used for its diagnosis.
conclusionUniversal screening could be an option to address the problem of underdiagnosis.
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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.