ArticleCancers2021
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Whole Exome-Wide Association Identifies Rare Variants inCancers · 2024Article
- Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.World journal of surgical oncology · 2024Article
- Oleuropein impact on colorectal cancer.Future science OA · 2024Review
- Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother.Frontiers in medicine · 2024Article
- Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.Frontiers in oncology · 2023Article
- Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.PloS one · 2022Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
introductionThe prevalence of pathogenic or likely pathogenic germline variants (PGV) in colorectal cancer (CRC) in young patients is seen in approximately one in five patients, with the majority of cases having gene variants associated with Lynch syndrome (LS). The primary aim was to describe the prevalence of 18 genes, all associated with hereditary polyposis and CRC, in a nationwide population of young CRC (yCRC) patients, and outline disease characteristics in patients with or without germline variants.
methodsWe screened 98 patients aged 18-40 with CRC diagnosed in 2010-2013 for variants in
resultsPGV were detected in twenty-four patients (24.5%), and twenty-one patients (21.1%) had variants in the mismatch repair (MMR) genes associated with LS. Variants in the
conclusionPGV was detected in one in four yCRC patients, and one in five yCRC patients had disease causing variants in the mismatch repair genes associated with LS.
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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.