{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:46:06Z","timestamp":1790905566827,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,3,20]],"date-time":"2006-03-20T00:00:00Z","timestamp":1142812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2006,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidemiological data has implicated heterozygosity for xeroderma pigmentosum (XP) as a risk factor for lung cancer. XP has 8 known complementation groups, 7 of which are caused by mutations in genes encoding components of the nucleotide excision repair (NER) pathway. To formally investigate the role of XP\u2010related <jats:italic>NER<\/jats:italic> genes in lung cancer susceptibility, we screened germline DNA from 92 familial early\u2010onset lung cancer patients for mutations in all coding regions and intron\u2013exon boundaries of <jats:italic>XPA<\/jats:italic>, <jats:italic>XPC<\/jats:italic>, <jats:italic>XPD<\/jats:italic>, <jats:italic>XPF<\/jats:italic>, <jats:italic>XPB<\/jats:italic>, <jats:italic>XPG<\/jats:italic> and <jats:italic>DDB2<\/jats:italic>. Forty\u2010one exonic variants were identified. Twenty\u2010four were nonsynonymous, of which 14 were previously documented polymorphisms. Ten missense variants had not been previously described; none of which were detected in germline DNA from 278 cancer\u2010free controls. Two of the novel missense changes are predicted to be functionally deleterious. Our findings are compatible with XP heterozygosity being a risk factor for lung cancer susceptibility. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.21931","type":"journal-article","created":{"date-parts":[[2006,3,21]],"date-time":"2006-03-21T01:20:35Z","timestamp":1142904035000},"page":"964-967","source":"Crossref","is-referenced-by-count":24,"title":["Evaluation of xeroderma pigmentosum <i>XPA<\/i>, <i>XPC<\/i>, <i>XPD<\/i>, <i>XPF<\/i>, <i>XPB<\/i>, <i>XPG<\/i> and <i>DDB2<\/i> genes in familial early\u2010onset lung cancer predisposition"],"prefix":"10.1002","volume":"119","author":[{"given":"Athena","family":"Matakidou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Eisen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Fleischmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Bridle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard S.","family":"Houlston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Members of the GELCAPS Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.55.2.74"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/66.6.1192"},{"key":"e_1_2_6_4_2","series-title":"IARC Monographs on the evaluation of the carcinogenic risk of chemicals to humans: tobacco smoking","year":"1986"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.21012"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0968-7"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1989.285"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02764.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/jjco\/27.6.415"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/09553009414552011"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.383.65.2"},{"key":"e_1_2_6_12_2","first-page":"1415","article-title":"Cancer in families with xeroderma pigmentosum","volume":"62","author":"Swift M","year":"1979","journal-title":"J Natl Cancer Inst"},{"key":"e_1_2_6_13_2","volume-title":"Fitzpatrick's dermatology in general medicine","author":"Kraemer KH","year":"2003"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1101\/sqb.2000.65.71"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/35094000"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2003.12.016"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_6_18_2","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1158\/1055-9965.801.13.5","article-title":"Identifying functional genetic variants in DNA repair pathway using protein conservation analysis","volume":"13","author":"Savas S","year":"2004","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1987.01660260111026"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1994.01690080084012"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)01988-0"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.21931","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.21931","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:02:34Z","timestamp":1696892554000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.21931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,8,15]]}},"alternative-id":["10.1002\/ijc.21931"],"URL":"https:\/\/doi.org\/10.1002\/ijc.21931","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}