{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T12:43:21Z","timestamp":1774788201026,"version":"3.50.1"},"reference-count":24,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Recently, a functionally defective <jats:italic>CHEK2<\/jats:italic> variant I157T has been proposed to associate with an increased risk of several types of cancer. We investigated the <jats:italic>CHEK2<\/jats:italic> I157T variant for colorectal cancer (CRC) predisposition in a large population based study including a significant number of familial CRC cases.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We screened the <jats:italic>CHEK2<\/jats:italic> I157T variant in a population based series of 1042 Finnish CRC patients using restriction fragment length polymorphism. Mutation status was studied for correlation with clinical characteristics and family history of CRC and other cancers.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The frequency of <jats:italic>CHEK2<\/jats:italic> I157T was significantly higher in CRC patients (7.8%, 76\/972) than in healthy population controls (5.3%, 100\/1885) (OR\u200a=\u200a1.5, 95% CI 1.1 to 2.1, p\u200a=\u200a0.008). The significant association of <jats:italic>CHEK2<\/jats:italic> I157T with CRC was observed among patients with (10.4%, 14\/135) and without (7.4%, 62\/837) a family history of CRC (OR\u200a=\u200a2.1, 95% CI 1.1 to 3.7, p\u200a=\u200a0.01; OR\u200a=\u200a1.4, 95% CI 1.0 to 2.0, p\u200a=\u200a0.03; respectively). A trend towards higher variant frequency was also noted among patients with multiple primary tumours and a family history of any cancer.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold>\n                  <jats:italic>CHEK2<\/jats:italic> I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients. Furthermore, the higher frequency of I157T among patients with multiple primary tumours as well as those with a family history of any cancer supports a role for <jats:italic>CHEK2<\/jats:italic> I157T as a susceptibility allele for multiple cancer types.<\/jats:p>","DOI":"10.1136\/jmg.2005.038331","type":"journal-article","created":{"date-parts":[[2006,6,30]],"date-time":"2006-06-30T17:58:47Z","timestamp":1151690327000},"page":"e34-e34","source":"Crossref","is-referenced-by-count":59,"title":["<i>CHEK2<\/i> I157T associates with familial and sporadic colorectal cancer"],"prefix":"10.1136","volume":"43","author":[{"given":"O","family":"Kilpivaara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Alhopuro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Vahteristo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L A","family":"Aaltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Nevanlinna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2006,6,30]]},"reference":[{"key":"2025101713022510000_43.7.e34.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1535-6108(03)00110-7"},{"key":"2025101713022510000_43.7.e34.2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20299"},{"key":"2025101713022510000_43.7.e34.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6601425"},{"key":"2025101713022510000_43.7.e34.4","doi-asserted-by":"publisher","DOI":"10.1086\/426403"},{"key":"2025101713022510000_43.7.e34.5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M009727200"},{"key":"2025101713022510000_43.7.e34.6","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204811"},{"key":"2025101713022510000_43.7.e34.7","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00527-0"},{"key":"2025101713022510000_43.7.e34.8","doi-asserted-by":"publisher","DOI":"10.1038\/35071124"},{"key":"2025101713022510000_43.7.e34.9","first-page":"598","volume":"1","year":"2003","journal-title":"Mol Cancer Res"},{"key":"2025101713022510000_43.7.e34.10","doi-asserted-by":"publisher","DOI":"10.1086\/421251"},{"key":"2025101713022510000_43.7.e34.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng879"},{"key":"2025101713022510000_43.7.e34.12","doi-asserted-by":"publisher","DOI":"10.1086\/341943"},{"key":"2025101713022510000_43.7.e34.13","first-page":"263","volume":"20","year":"2005","journal-title":"Int J Cancer"},{"key":"2025101713022510000_43.7.e34.14","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-04-0341"},{"key":"2025101713022510000_43.7.e34.15","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20073"},{"key":"2025101713022510000_43.7.e34.16","doi-asserted-by":"publisher","DOI":"10.1086\/373965"},{"key":"2025101713022510000_43.7.e34.17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199805213382101"},{"key":"2025101713022510000_43.7.e34.18","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1200\/JCO.2000.18.11.2193","volume":"18","year":"2000","journal-title":"J Clin Oncol"},{"key":"2025101713022510000_43.7.e34.19","doi-asserted-by":"publisher","DOI":"10.1086\/375121"},{"key":"2025101713022510000_43.7.e34.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.e110"},{"key":"2025101713022510000_43.7.e34.21","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3835(03)00391-4"},{"key":"2025101713022510000_43.7.e34.22","doi-asserted-by":"publisher","DOI":"10.1086\/375121"},{"key":"2025101713022510000_43.7.e34.23","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20195"},{"key":"2025101713022510000_43.7.e34.24","doi-asserted-by":"publisher","DOI":"10.1038\/ng1052"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2005.038331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:02:34Z","timestamp":1760731354000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2005.038331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,30]]},"references-count":24,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2006,6,30]]},"published-print":{"date-parts":[[2006,7]]}},"alternative-id":["10.1136\/jmg.2005.038331"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2005.038331","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,30]]}}}