{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T14:38:27Z","timestamp":1768315107175,"version":"3.49.0"},"reference-count":37,"publisher":"American Association for Cancer Research (AACR)","issue":"10","content-domain":{"domain":["aacrjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2005,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The ERCC2 protein is an evolutionary conserved ATP-dependent helicase that is associated with a TFIIH transcription factor complex and plays an important role in nucleotide excision repair. Mutations in this gene are responsible for xeroderma pigmentosum and also for Cocayne syndrome and trichothiodystrophy. Several single nucleotide polymorphisms have been identified in the ERCC2 locus. Among them, a G23591A polymorphism in the codon 312 results in an Asp \u2192 Asn substitution in a conserved region and a A35931C polymorphism in the codon 751 results in a Lys \u2192 Gln substitution. Because these polymorphisms have been associated with an increased risk for several types of cancers, we carried out an hospital based case-control study in a Caucasian Portuguese population to evaluate the potential role of these polymorphisms on the individual susceptibility to thyroid cancer. The results obtained did not reveal a significant association between each individual polymorphism studied (G23591A and A35931C) and an increased thyroid cancer risk, but individuals homozygous for non-wild-type variants are overrepresented in patients group. The evaluation of the different haplotypes generated by these polymorphisms showed that individuals simultaneously homozygous for rare variants of both polymorphisms have an increased risk for thyroid cancer [adjusted odds ratio (OR) 3.084; 95% confidence interval (95% CI), 1.347-7.061; P = 0.008] and for papillary thyroid\u2013type tumors (adjusted OR, 2.997; 95% CI, 1.235-7.272; P = 0.015) but not for follicular thyroid\u2013type tumors. These results suggest that genetic polymorphisms in this gene might be associated with individual susceptibility towards thyroid cancer, mainly papillary-type tumors, but larger studies are required to confirm these results.<\/jats:p>","DOI":"10.1158\/1055-9965.epi-05-0230","type":"journal-article","created":{"date-parts":[[2006,3,21]],"date-time":"2006-03-21T18:43:29Z","timestamp":1142966609000},"page":"2407-2412","update-policy":"https:\/\/doi.org\/10.1158\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Association of Polymorphisms in <i>ERCC2<\/i> Gene with Non-Familial Thyroid Cancer Risk"],"prefix":"10.1158","volume":"14","author":[{"given":"Susana N.","family":"Silva","sequence":"first","affiliation":[{"name":"1Genetics and Departments of"}]},{"given":"Octa\u0301via Monteiro","family":"Gil","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"},{"name":"4Department of Radiological Protection and Nuclear Safety, Nuclear and Technological Institute, Sacave\u0301m, Portugal; and"}]},{"given":"Vanessa C.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"}]},{"given":"Marisa N.","family":"Cabral","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"}]},{"given":"Ana Paula","family":"Azevedo","sequence":"additional","affiliation":[{"name":"2Laboratorial Medicine, Faculty of Medical Sciences, New University of Lisbon;"}]},{"given":"Ana","family":"Faber","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"}]},{"given":"Isabel","family":"Manita","sequence":"additional","affiliation":[{"name":"5Hospital Garcia da Horta, Unit of Endocrinology, Almada, Portugal"}]},{"given":"Teresa Cruz","family":"Ferreira","sequence":"additional","affiliation":[{"name":"3Department of Nuclear Medicine, Portuguese Oncology Institute of Lisbon, Lisboa, Portugal;"}]},{"given":"Edward","family":"Limbert","sequence":"additional","affiliation":[{"name":"3Department of Nuclear Medicine, Portuguese Oncology Institute of Lisbon, Lisboa, Portugal;"}]},{"given":"Julieta Esperanc\u0327a","family":"Pina","sequence":"additional","affiliation":[{"name":"2Laboratorial Medicine, Faculty of Medical Sciences, New University of Lisbon;"}]},{"given":"Jose\u0301","family":"Rueff","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"}]},{"given":"Jorge","family":"Gaspar","sequence":"additional","affiliation":[{"name":"1Genetics and Departments of"}]}],"member":"1086","published-online":{"date-parts":[[2005,10,7]]},"reference":[{"key":"2022061000475449700_BIB1","doi-asserted-by":"crossref","unstructured":"Schlumberger MJ, Torlantano M. 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