{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:05:39Z","timestamp":1761523539808},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,4,25]],"date-time":"2005-04-25T00:00:00Z","timestamp":1114387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2005,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>CHEK2<\/jats:italic> 1100delC mutation was recently identified as a low\u2010penetrance breast cancer susceptibility allele. The mutation occurred more frequently in families with clustering of breast and colorectal cancers (CRCs) than in families with clustering of breast cancer only. Hence, the 1100delC mutation could also be a low\u2010penetrance CRC susceptibility allele. To test this hypothesis, we examined the mutation in 629 unselected CRC cases, 230 controls, and 105 selected CRCs diagnosed in patients before age 50. The mutation was observed in 1.6% of unselected patients and in 0.3% of controls (Not significant (NS)). After stratifying unselected patients according to defined genetic risk (on the basis of age at diagnosis and family history of colorectal and endometrial cancer), the highest frequency was observed in high\u2010risk patients (12.5%), followed by moderate\u2010risk patients (3.3%), and was lowest in low\u2010risk patients (1.0%, <jats:italic>P<\/jats:italic><jats:sub>trend<\/jats:sub> 0.014). In selected patients, 1.6% carried the mutation (NS). Subgroup analyses for tumor localization, gender, and age at diagnosis did not reveal an association with the 1100delC genotype. In addition, a pooled analysis, combining data of one published study in unselected CRC cases and our study, also did not reveal an association. In conclusion, the frequency of the 1100delC genotype was neither significantly increased in unselected CRC patients nor in selected CRC patients diagnosed before age 50. However, after stratifying unselected CRC patients according to defined genetic risk, a significant trend of increasing frequency was observed. Together, the results are consistent with a low\u2010penetrance effect (OR 1.5\u20132.0) of the <jats:italic>CHEK2<\/jats:italic> 1100delC on CRC risk. Large case\u2013control studies are required to clarify the exact role of the <jats:italic>CHEK2<\/jats:italic> 1100delC mutation in CRC. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20195","type":"journal-article","created":{"date-parts":[[2005,4,25]],"date-time":"2005-04-25T16:16:25Z","timestamp":1114445785000},"page":"377-382","source":"Crossref","is-referenced-by-count":26,"title":["Colorectal cancer and the <i>CHEK2<\/i> 1100delC mutation"],"prefix":"10.1002","volume":"43","author":[{"given":"Mirjam M.","family":"de Jong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilja M.","family":"Nolte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard J.","family":"te Meerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winette T. A.","family":"van der Graaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel J.","family":"Mulder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerrit","family":"van der Steege","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Bruinenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Schaapveld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9e C.","family":"Niessen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maran J. W.","family":"Berends","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf H.","family":"Sijmons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M. W.","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth G. E.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan H.","family":"Kleibeuker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,4,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/35103059"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.52.12.1748"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/421251"},{"key":"e_1_2_6_5_1","first-page":"1332","article-title":"Low\u2010penetrance genes and their involvement in colorectal cancer susceptibility","volume":"11","author":"de Jong MM","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.4.225"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(03)00376-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.e110"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3835(03)00391-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng879"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/375121"},{"key":"e_1_2_6_12_1","first-page":"267","article-title":"Improving the ascertainment of families at high risk of colorectal cancer: a prospective GP register study","volume":"54","author":"Rose PW","year":"2004","journal-title":"Br J Gen Pract"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/341943"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015366"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-137"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20195","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T06:12:02Z","timestamp":1695967922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,25]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["10.1002\/gcc.20195"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20195","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,25]]}}}