ArticleHereditary cancer in clinical practice2009
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
Article in Hereditary cancer in clinical practice, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan.Scientific reports · 2021Trial
- Review
- Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.Cancer treatment and research · 2024Review
- Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2020Article
- Penetrance of Colorectal Cancer Among Mismatch Repair Gene Mutation Carriers: A Meta-Analysis.JNCI cancer spectrum · 2020Review
- Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.BioMed research international · 2020Article
- Synoptic Reporting: Evidence-Based Review and Future Directions.JCO clinical cancer informatics · 2018Review
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- The Impact of Receiving Predictive Genetic Information about Lynch Syndrome on Individual Colonoscopy and Smoking Behaviors.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2016Article
- Colorectal Cancer Incidence Rates in the Louisiana Acadian Parishes Demonstrated to be Among the Highest in the United States.Clinical and translational gastroenterology · 2014Article
- Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC).Medical oncology (Northwood, London, England) · 2014Article
- Haplotype analyses of DNA repair gene polymorphisms and their role in ulcerative colitis.PloS one · 2014Article
- The genetic basis of Lynch syndrome and its implications for clinical practice and risk management.The application of clinical genetics · 2014Review
- Cancer risk in Lynch Syndrome.Familial cancer · 2013Review
- Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.European journal of human genetics : EJHG · 2013Article
- DNA MMR systems, microsatellite instability and antioxidant activity variations in two species of wild bats: Myotis velifer and Desmodus rotundus, as possible factors associated with longevity.Age (Dordrecht, Netherlands) · 2012Article
- Identification of patients at risk for hereditary colorectal cancer.Clinics in colon and rectal surgery · 2012Article
- DNA mismatch repair system: repercussions in cellular homeostasis and relationship with aging.Oxidative medicine and cellular longevity · 2012Review
- Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis.Annals of internal medicine · 2011Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundSeveral DNA mismatch repair (MMR) genes, responsible for the majority of Lynch Syndrome cancers, have been identified, predominantly MLH1 and MSH2, but the risk associated with these mutations is still not well established. The aim of this study is to provide population-based estimates of the risks of colorectal cancer (CRC) by gender and mutation type from the Ontario population.
methodsWe analyzed 32 families segregating MMR mutations selected from the Ontario Familial Colorectal Cancer Registry and including 199 first-degree and 421 second-degree relatives. The cumulative risks were estimated using a modified segregation-based approach, which allows correction for the ascertainment of the Lynch Syndrome families and permits account to be taken for missing genotype information.
resultsThe risks of developing CRC by age 70 were 60% and 47% among men and women carriers of any MMR mutation, respectively. Among MLH1 mutation carriers, males had significantly higher risks than females at all ages (67% vs. 35% by age 70, p-value = 0.02), while the risks were similar in MSH2 carriers (about 54%). The relative risk associated with MLH1 was almost constant with age (hazard ratio (HR) varied between 5.5-5.1 over age 30-70), while the HR for MSH2 decreased with age (from 13.1 at age 30 to 5.4 at age 70).
conclusionThis study provides a unique population-based study of CRC risks among MSH2/MLH1 mutation carriers in a Canadian population and can help to better define and understand the patterns of risks among members of Lynch Syndrome families.
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Registered trials
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