ArticleFamilial cancer2010
Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers, 1 of them a synthesis 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- 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
- Pathogenic germline variants in mismatch repair genes in patients with microsatellite instability-high gastric cancer.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2025Article
- A brief review of Lynch syndrome: understanding the dual cancer risk between endometrial and colorectal cancer.Oncology reviews · 2025Review
- Development and validation of machine learning models for young-onset colorectal cancer risk stratification.NPJ precision oncology · 2024Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Informing relatives of their genetic risk: an examination of the Belgian legal context.European journal of human genetics : EJHG · 2022Review
- Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers.BMC medical genomics · 2022Article
- Population genomic screening: Ethical considerations to guide age at implementation.Frontiers in genetics · 2022Review
- Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.JAMA oncology · 2015Article
- Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study.Gastroenterology research and practice · 2015Article
- Early-onset colorectal cancer: a separate subset of colorectal cancer.World journal of gastroenterology · 2014Review
- Early-onset colorectal cancer: a sporadic or inherited disease?World journal of gastroenterology · 2014Review
- Early-onset colorectal cancer patients without family history are "at very low risk" for lynch syndrome.Journal of experimental & clinical cancer research : CR · 2014Article
- MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2010Article
- Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome.Cancer control : journal of the Moffitt Cancer CenterArticle
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three cancer centers. Determined the frequency of germline mutations in probands meeting different clinical criteria used to identify Lynch syndrome. Three of 46 (6.5%) single case indicators (probands without additional personal or family history suspicious for Lynch syndrome) were identified to carry a deleterious or suspected deleterious mismatch repair (MMR) mutation compared with 10 of 19 (52.6%) in the cases meeting at least one additional revised Bethesda guideline, and 11 of 15 (73.3%) in the cases meeting Amsterdam criteria. Two families without MMR mutations were documented to have a germline APC or TP53 mutation after additional clinical features were identified. Our results suggest that single cases of CRC (those without additional personal or family history suspicious of Lynch syndrome) diagnosed prior to age 36 infrequently have identifiable MMR mutations, especially when compared to cases meeting additional criteria. Careful attention to evolving or additional clinical features is warranted and may lead to an alternate genetic diagnosis in families with early onset CRC.
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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.