{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:11:02Z","timestamp":1791040262952,"version":"4.1.0"},"reference-count":56,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:p>Background: Hereditary 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.<\/jats:p>\n                  <jats:p>Aim: To 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.<\/jats:p>\n                  <jats:p>Methods: This 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.<\/jats:p>\n                  <jats:p>Results: Among 1328 eligible CRC patients, 1200 (90.4%) completed a questionnaire. A total of 1.7% (95% confidence interval (CI) 1.0\u20132.4) (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 fulfilment 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.<\/jats:p>\n                  <jats:p>Conclusion: The 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.<\/jats:p>","DOI":"10.1136\/gut.50.1.43","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:29:07Z","timestamp":1027751347000},"page":"43-51","source":"Crossref","is-referenced-by-count":60,"title":["Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients"],"prefix":"10.1136","volume":"50","author":[{"given":"N","family":"Katballe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F P","family":"Wikman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T F","family":"\u00d8rntoft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Laurberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,1,1]]},"reference":[{"key":"2025121300430600000_50.1.43.1","first-page":"546","volume":"12","year":"1913","journal-title":"Arch Intern Med"},{"key":"2025121300430600000_50.1.43.2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197106)27:6<1505::AID-CNCR2820270635>3.0.CO;2-L"},{"key":"2025121300430600000_50.1.43.3","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19850815)56:4<934::AID-CNCR2820560439>3.0.CO;2-I"},{"key":"2025121300430600000_50.1.43.4","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/S0889-8553(21)00399-X","volume":"17","year":"1988","journal-title":"Gastroenterol Clin North Am"},{"key":"2025121300430600000_50.1.43.5","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1016\/0016-5085(93)90368-M","volume":"104","year":"1993","journal-title":"Gastroenterology"},{"key":"2025121300430600000_50.1.43.6","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19930201)71:3<677::AID-CNCR2820710305>3.0.CO;2-#"},{"key":"2025121300430600000_50.1.43.7","doi-asserted-by":"publisher","DOI":"10.1007\/BF02053699"},{"key":"2025121300430600000_50.1.43.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(99)70510-X"},{"key":"2025121300430600000_50.1.43.9","doi-asserted-by":"publisher","DOI":"10.1007\/BF02236922"},{"key":"2025121300430600000_50.1.43.10","first-page":"3920","volume":"57","year":"1997","journal-title":"Cancer Res"},{"key":"2025121300430600000_50.1.43.11","doi-asserted-by":"publisher","DOI":"10.1038\/368258a0"},{"key":"2025121300430600000_50.1.43.12","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90306-9"},{"key":"2025121300430600000_50.1.43.13","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90330-S"},{"key":"2025121300430600000_50.1.43.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-271"},{"key":"2025121300430600000_50.1.43.15","doi-asserted-by":"publisher","DOI":"10.1038\/371075a0"},{"key":"2025121300430600000_50.1.43.16","doi-asserted-by":"publisher","DOI":"10.1126\/science.8128251"},{"key":"2025121300430600000_50.1.43.17","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1997.v113.pm9322509"},{"key":"2025121300430600000_50.1.43.18","first-page":"565","volume":"13","year":"1998","journal-title":"Int J Oncol"},{"key":"2025121300430600000_50.1.43.19","first-page":"5068","volume":"59","year":"1999","journal-title":"Cancer Res"},{"key":"2025121300430600000_50.1.43.20","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19991008)83:2<197::AID-IJC9>3.0.CO;2-X"},{"key":"2025121300430600000_50.1.43.21","first-page":"1645","volume":"54","year":"1994","journal-title":"Cancer Res"},{"key":"2025121300430600000_50.1.43.22","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/gut.43.4.553","volume":"43","year":"1998","journal-title":"Gut"},{"key":"2025121300430600000_50.1.43.23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1245"},{"key":"2025121300430600000_50.1.43.24","first-page":"5248","volume":"58","year":"1998","journal-title":"Cancer Res"},{"key":"2025121300430600000_50.1.43.25","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1136\/gut.44.6.839","volume":"44","year":"1999","journal-title":"Gut"},{"key":"2025121300430600000_50.1.43.26","doi-asserted-by":"publisher","DOI":"10.1038\/nm0296-169"},{"key":"2025121300430600000_50.1.43.27","doi-asserted-by":"publisher","DOI":"10.1007\/s003840050211"},{"key":"2025121300430600000_50.1.43.28","doi-asserted-by":"publisher","DOI":"10.1086\/302612"},{"key":"2025121300430600000_50.1.43.29","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199805213382101"},{"key":"2025121300430600000_50.1.43.30","unstructured":"Parkin DM, Muir CS. 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