Trial reportBritish journal of cancer2004
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
Trial report in British journal of cancer, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses 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
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Pooled it
- Uptake of genetic testing by relatives of lynch syndrome probands: a systematic review.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2013Pooled it
- Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard.Biostatistics (Oxford, England) · 2005Pooled it
- Informing relatives about their hereditary or familial cancer risk: study protocol for a randomized controlled trial.Trials · 2014Trial
- Developing a questionnaire to explore lay people's preferences for communicating hereditary conditions within families: insights from a cognitive interview study.Journal of community genetics · 2025Article
- Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.Familial cancer · 2024Article
- Expanding access to genetic testing for pancreatic cancer.Familial cancer · 2024Review
- Young-onset colorectal cancer.Nature reviews. Disease primers · 2023Review
- Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.Familial cancer · 2020Article
- Deficiency of hMLH1 and hMSH2 expression is a poor prognostic factor in Early Gastric Cancer (EGC).Journal of Cancer · 2017Article
- Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.International journal of behavioral medicine · 2015Article
- Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.Clinical genetics · 2015Article
- Incidence, clinical features and possible etiology of early onset (≤40 years) colorectal neoplasms.Internal and emergency medicine · 2014Article
- History, genetics, and strategies for cancer prevention in Lynch syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2014Review
- Reflex testing for Lynch syndrome: if we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC).Familial cancer · 2014Article
- Patient compliance based on genetic medicine: a literature review.Journal of community genetics · 2014Article
- Attitudes of patients with cancer about personalized medicine and somatic genetic testing.Journal of oncology practice · 2012Article
- Perception of direct-to-consumer genetic testing and direct-to-consumer advertising of genetic tests among members of a large managed care organization.Journal of genetic counseling · 2012Article
- An American founder mutation in MLH1.International journal of cancer · 2012Article
- Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndrome.Clinical genetics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair. We identified 32 kindreds, with germline mutations in one of three genes hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals in each family underwent genetic testing: moreover, we assessed how many mutation-positive unaffected individuals accepted colonoscopic surveillance and the main findings of the recommended follow-up. Families were identified through a population-based registry, or referred from other centres. Members of the families were invited for an education session with two members of the staff. When a kindred was consistent with HNPCC, neoplastic tissues were examined for microsatellite instability (MSI) and immunohistochemical expression of MSH2, MLH1 and MSH6 proteins. Moreover, constitutional mutations were searched by SSCP or direct sequencing of the whole genomic region. Of the 164 subjects assessed by genetic testing, 89 were gene carriers (66 affected - that is, with HNPCC-related cancer diagnosis - and 23 unaffected) and 75 tested negative. Among the 23 unaffected gene carriers, 18 (78.3%) underwent colonoscopy and four declined. On a total of 292 first degree at risk of cancer, 194 (66.4%) did not undergo genetic testing. The main reasons for this were: (a) difficulty to reach family members at risk, (b) lack of collaboration, (c) lack of interest in preventive medicine or 'fatalistic' attitude towards cancer occurrence. The number of colorectal lesions detected at endoscopy in gene carriers was significantly (P<0.01) higher than in controls (noncarriers). We conclude that a large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing, despite the benefits of molecular screening and endoscopic surveillance. This clearly indicates that there are still barriers to genetic testing in HNPCC, and that we are unable to provide adequate protection against cancer development in these families.
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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.