ArticleFrontiers in genetics2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 4 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 4 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Tooth agenesis as a potential clinical indicator of colorectal cancer susceptibility: a systematic review.Frontiers in oral health · 2026Pooled it
- Pooled it
- Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.Annals of oncology : official journal of the European Society for Medical Oncology · 2024Pooled it
- Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023Guideline
- Prognostic nomograms for predicting overall survival and cancer-specific survival of patients with very early-onset colorectal cancer: A population‑based analysis.Bosnian journal of basic medical sciences · 2022Trial
- Interpreting the effects of DNA polymerase variants at the structural level.Molecular oncology · 2026Article
- RPS20 as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls.Familial cancer · 2026Review
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
- Training and validation of a nomogram for predicting synchronous distant organ metastasis in patients with very-early-onset colorectal cancer.Journal of gastrointestinal oncology · 2026Article
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- A germline variant of ring finger protein 43 in an early onset, treatment-resistant metastatic gastric cancer: a case report.Journal of gastrointestinal oncology · 2025Article
- Association ofJCO precision oncology · 2025Article
- Early-onset gastrointestinal cancers: comprehensive review and future directions.The British journal of surgery · 2025Review
- Germline variants in patients from the Iranian hereditary colorectal cancer registry.Cancer cell international · 2025Article
- New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.Familial cancer · 2025Article
- Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.Frontiers in oncology · 2025Article
- Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.Cancer research communications · 2024Article
- Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs.Open biology · 2024Article
- Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.The Kaohsiung journal of medical sciences · 2023Article
- Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.Molecular genetics & genomic medicine · 2023Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A genetic diagnosis facilitates personalized cancer treatment and clinical care of relatives at risk, however, although 25% of colorectal cancer cases are familial, around 95% of the families are genetically unresolved. In this study, we performed gene panel analysis on germline DNA of 32 established or candidate colorectal cancer predisposing genes in 149 individuals from either families with an accumulation of colorectal cancers or families with only one sporadic case of very early onset colorectal cancer (≤40 years at diagnosis). We identified pathogenic or likely pathogenic genetic variants in 10.1% of the participants in genes such as
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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.