ReviewThe Journal of pathology2019
Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.
Review in The Journal of pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
111 citing papers in PubMed, 4 syntheses or guidelines pooled it, 202 citations in OpenAlex.
- The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis.Journal of genetic counseling · 2025Pooled it
- Association between cholecystectomy/gallbladder pathology and colorectal polyps: a systematic review and meta-analysis.Frontiers in oncology · 2025Pooled it
- Association between CYP2E1 polymorphisms and colorectal cancer risk: a systematic review and meta-analysis.Scientific reports · 2022Pooled it
- Association Between the hOGG1 1245C>G (rs1052133) Polymorphism and Susceptibility to Colorectal Cancer: a Meta-analysis Based on 7010 Cases and 10,674 Controls.Journal of gastrointestinal cancer · 2021Pooled it
- Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer.European journal of human genetics : EJHG · 2026Article
- Comparative analysis of outcomes and sociodemographic factors in early- and late-onset colorectal cancer hospitalizations.Journal of gastrointestinal oncology · 2026Article
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
- Association of germline variants with KRAS-mutation status in colorectal cancer.Scientific reports · 2026Article
- Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.Biomedicines · 2026Article
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- Deciphering the Molecular Interactions of Tuberculosis and Colorectal Cancer: A Network and RNA-Seq Data Analysis Approach.Anti-cancer agents in medicinal chemistry · 2026Article
- Familial colorectal cancer: search for novel predisposition genes.Human genomics · 2025Article
- Emerging insights of decoding the genetic blueprint, molecular mechanisms, and future horizons in precision medicine for the treatment of type 2 diabetes.Journal of diabetes and metabolic disorders · 2025Review
- The antimicrobial metabolite nisin Z reduces intestinal tumorigenesis and modulates the cecal microbiome in ApcMicrobiology spectrum · 2025Article
- Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.Cancers · 2025Review
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Adaptations of lipid metabolism in low-grade clear cell renal cell carcinoma are linked to cholesteryl ester accumulation.Scientific reports · 2025Article
- The Anti-Inflammatory, Immunomodulatory, and Pro-Autophagy Activities of Probiotics for Colorectal Cancer Prevention and Treatment: A Narrative Review.Biomedicines · 2025Review
- Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- Colonoscopy findings in CDH1 carriers from a multicenter international study.Familial cancer · 2025Article
51 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
4 authors at 4 institutions in 2 countries.
Funding
Abstract
This article reviews genes and syndromes associated with predisposition to colorectal cancer (CRC), with an overview of gene variant classification. We include updates on the application of preventive and therapeutic measures, focusing on the use of non-steroidal anti-inflammatory drugs (NSAIDs) and immunotherapy. Germline pathogenic variants in genes conferring high or moderate risk to cancer are detected in 6-10% of all CRCs and 20% of those diagnosed before age 50. CRC syndromes can be subdivided into nonpolyposis and polyposis entities, the most common of which are Lynch syndrome and familial adenomatous polyposis, respectively. In addition to known and novel genes associated with highly penetrant CRC risk, identification of pathogenic germline variants in genes associated with moderate-penetrance cancer risk and/or hereditary cancer syndromes not traditionally linked to CRC may have an impact on genetic testing, counseling, and surveillance. The use of multigene panels in genetic testing has exposed challenges in the classification of variants of uncertain significance. We provide an overview of the main classification systems and strategies for improving these. Finally, we highlight approaches for integrating chemoprevention in the care of individuals with genetic predisposition to CRC and use of targeted agents and immunotherapy for treatment of mismatch repair-deficient and hypermutant tumors. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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What OpenQuestion holds
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.