ArticleGut2002
Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.
Article in Gut, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.PloS one · 2013Pooled it
- Predisposing conditions in patients with small intestinal adenocarcinomas in the Netherlands: A 20-year nationwide cohort study.International journal of cancer · 2025Article
- The genomics of sporadic and hereditary colorectal cancer.Annals of the Royal College of Surgeons of England · 2024Review
- Role of microRNA in colorectal carcinoma (CRC): a narrative review.Annals of medicine and surgery (2012) · 2024Review
- The importance of G2677T/A and C3435T polymorphisms of the MDR1 gene in the aetiology of colorectal cancer.Przeglad gastroenterologiczny · 2016Article
- Survival in familial colorectal cancer: a Danish cohort study.Familial cancer · 2015Article
- Somatic molecular changes and histo-pathological features of colorectal cancer in Tunisia.World journal of gastroenterology · 2013Article
- Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study.Canadian journal of surgery. Journal canadien de chirurgie · 2012Article
- Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2012Article
- A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.Familial cancer · 2012Article
- Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.Familial cancer · 2009Article
- Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.The Journal of molecular diagnostics : JMD · 2007Article
- Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients.World journal of gastroenterology · 2007Article
- The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.Familial cancer · 2007Article
- Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies.Familial cancer · 2007Article
- Clinicopathological and molecular genetic analysis of HNPCC in China.World journal of gastroenterology · 2005Article
- Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population.World journal of gastroenterology · 2005Article
- Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.Journal of the National Cancer Institute · 2004Article
- Article
- Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer.World journal of gastroenterology · 2003Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome, characterised by familial aggregation of HNPCC related cancers, germline mutations in mismatch repair genes, and/or microsatellite instability (MSI) in tumour tissue.
aimTo estimate the frequency of HNPCC among non-selected Danish patients with colorectal cancer (CRC), and to evaluate the value of MSI analysis as a pre-screen test.
methodsThis was a prospective population based study on consecutive CRC patients. A family history of malignancy was obtained and suspected HNPCC cases were screened for hMLH1/hMSH2 mutations and subjected to MSI analysis. Patients with germline mutations and/or those with Amsterdam criteria I or II families were categorised as HNPCC patients.
resultsAmong 1328 eligible CRC patients, 1200 (90.4%) completed a questionnaire. A total of 1.7% (95% confidence interval (CI) 1.0-2.4) (20 cases) were categorised as HNPCC patients. Amsterdam criteria I or II were met in 18 cases (1.5%), and in another two cases (0.2%) pathogenic hMLH1/hMSH2 mutations were detected without fulfillment of the Amsterdam criteria I or II. Among 77 patients younger than 50 years of age, 11 cases (14.3%) were categorised as HNPCC. The Amsterdam criteria I or II were met in eight of 10 gene carriers (80%). The MSI-high phenotype was demonstrated in all 10 gene carriers.
conclusionThe frequency of HNPCC was approximately 1.7% among all CRC cases and 14.3% among patients younger than 50 years of age. MSI analysis is a reliable pre-screen test for hMLH1/hMSH2 mutations in families suspected of having HNPCC.
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