ReviewFamilial cancer2016
Update on Lynch syndrome genomics.
Review in Familial cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05142033 (Implementation of Comprehensive Molecular Profiling and Deep Clinical Annotation of Electronic Health Records in Participants Diagnosed With or at Risk of Developing Cancer), which is not on this map. Cited by 90 papers.
What it found
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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.
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.
Implementation of Comprehensive Molecular Profiling and Deep Clinical Annotation of Electronic Health Records in Participants Diagnosed With or at Risk of Developing Cancer (ASAP Study)
Who cites it
90 citing papers in PubMed.
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.European journal of human genetics : EJHG · 2026Article
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome.European journal of human genetics : EJHG · 2026Review
- Genetic Landscape of Lynch Syndrome in a High-Risk Serbian Cohort: Predominance ofInternational journal of molecular sciences · 2026Article
- A Rare Case of Seminoma in an Elderly Patient With Suspected Lynch Syndrome.Clinical case reports · 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
- New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors.Endocrine pathology · 2026Article
- Prostate Cancer Risk and DNA Mismatch Repair Deficiency Among Lynch Syndrome Patients.European urology open science · 2026Article
- Molecular Profiling of Germline Variants in the DNA Mismatch Repair Genes in Chinese Colorectal Cancer Patients.Genetics research · 2026Article
- NovelFrontiers in medicine · 2026Article
- The Application of the NGS and MLPA Methods in the Molecular Diagnostics of Lynch Syndrome.Diagnostics (Basel, Switzerland) · 2025Article
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- [Secondary malignant neoplasms with underlying Lynch syndrome and coincidental ulcerative colitis].Chirurgie (Heidelberg, Germany) · 2025Article
- Disentangling the mutational effects on protein stability and interaction of human MLH1.PLoS genetics · 2025Article
- Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.NPJ genomic medicine · 2025Article
- Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.Cancer reports (Hoboken, N.J.) · 2024Article
- Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.Human molecular genetics · 2024Article
- Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome.Human genome variation · 2024Article
- Single Center Characterization of a Cohort of Salivary Gland Carcinomas.Life (Basel, Switzerland) · 2024Article
- Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.Journal of medical genetics · 2024Article
30 more citing papers are in PubMed but not listed here.
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6, and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of the most prevalent hereditary cancer syndromes in man and accounts for 1-3 % of unselected colorectal carcinomas and some 15 % of those with microsatellite instability and/or absent MMR protein. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) maintains a database for LS-associated mutations since 1996. The database was recently reorganized to efficiently gather published and unpublished data and to classify the variants according to a five-tiered scheme linked to clinical recommendations. This review provides an update of germline mutations causing susceptibility to LS based on information available in the InSiGHT database and the latest literature. MMR gene mutation profiles, correlations between genotype and phenotype, and possible mechanisms leading to the characteristic spectrum of tumors in LS are discussed in light of the different functions of MMR proteins, many of which directly serve cancer avoidance.
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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.