{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:31:20Z","timestamp":1791279080172,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"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":[[2013,9]]},"abstract":"<jats:p><jats:italic>Xeroderma pigmentosum<\/jats:italic> is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. The presence of a distinct the nucleotide excision repair (NER) mutation signature in melanoma suggests that perturbations in this critical repair process are likely to be involved with disease risk. We hypothesized that persons with polymorphic NER gene(s) are likely to have reduced NER activity and are consequently at an increased risk of melanoma development. We assessed the association between 94 SNPs within seven <jats:italic>XP<\/jats:italic> genes (<jats:italic>XPA\u2013XPG<\/jats:italic>) and the melanoma risk in the Polish population. We genotyped 714 unselected melanoma patients and 1,841 healthy adults to determine if there were any polymorphisms differentially represented in the disease group. We found that a significantly decreased risk of melanoma was associated with the <jats:italic>Xeroderma pigmentosum<\/jats:italic> complementation (<jats:italic>XPC<\/jats:italic>) rs2228000_CT genotype (odds ratio [OR]\u2009=\u20090.15; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) and the rs2228000_TT genotype (OR\u2009=\u20090.11; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) compared to the reference genotype. Haplotype analysis within <jats:italic>XPC<\/jats:italic> revealed the rs2228001_A\u2009+\u2009G1475A_G\u2009+\u2009G2061A_A\u2009+\u2009rs2228000_T\u2009+\u2009rs3731062_C haplotype (OR\u2009=\u20090.26; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) was associated with a significantly decreased disease risk. The haplotype analysis within the Xeroderma pigmentosum group D (<jats:italic>XPD<\/jats:italic>) showed a modest association between two haplotypes and a decrease in melanoma risk. There were no major differences between the prevalence of the XP polymorphisms among young or older patients with melanoma. Linkage disequilibrium of <jats:italic>XPC<\/jats:italic>: rs2228001, G1475A, G2061A, rs2228000 and rs3731062 was found. The data from our study support the notion that only <jats:italic>XPC<\/jats:italic> and <jats:italic>XPD<\/jats:italic> genes are associated with melanoma susceptibility.<\/jats:p>","DOI":"10.1002\/ijc.28123","type":"journal-article","created":{"date-parts":[[2013,2,22]],"date-time":"2013-02-22T09:50:27Z","timestamp":1361526627000},"page":"1094-1100","source":"Crossref","is-referenced-by-count":51,"title":["<i>Xeroderma pigmentosum<\/i> genes and melanoma risk"],"prefix":"10.1002","volume":"133","author":[{"given":"K.","family":"Paszkowska\u2010Szczur","sequence":"first","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Scott","sequence":"additional","affiliation":[{"name":"Discipline of Medical Genetics, Faculty of Health University of Newcastle and Hunter Medical Research Institute Newcastle NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Serrano\u2010Fernandez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Mirecka","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Gapska","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"G\u00f3rski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Cybulski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Maleszka","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Sulikowski","sequence":"additional","affiliation":[{"name":"Clinic of Maxillofacial Surgery Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Nagay","sequence":"additional","affiliation":[{"name":"West\u2010Pomeranian Center of Oncology Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Lubinski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"D\u0119bniak","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, International Hereditary Cancer Center Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8588(05)70018-6"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206445"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1897-4287-5-2-97"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.38.23465"},{"key":"e_1_2_7_6_1","unstructured":"CleaverJE.Alleleic variations of the XP genes.2002 URL:http:\/\/xpmutations.org\/genes.html."},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)89088-X"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08658"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.06.003"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2011.05.011"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09644.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-06-0672"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201296"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgi055"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/22.3.403"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-04-0846"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6601385"},{"key":"e_1_2_7_18_1","first-page":"179","article-title":"The Gln\/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys\/Gln as an important predictor for melanoma progression: a case control study in the Swedish population","volume":"20","author":"Kertat K","year":"2008","journal-title":"Oncol Rep"},{"key":"e_1_2_7_19_1","first-page":"5612","article-title":"A Variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer","volume":"60","author":"Winsey SL","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgl257"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_7_22_1","unstructured":"RivaA.CHIP Bioinformatics Tools.2006\u20132011 URL:http:\/\/snpper.chip.org\/."},{"key":"e_1_2_7_23_1","unstructured":"R Development Core Team.R: a language and environment for statistical computing2010. R Foundation for Statistical Computing."},{"key":"e_1_2_7_24_1","unstructured":"SinnwellJP SchaidDJ.Statistical analysis of haplotypes with traits and covariates when linkage phase is ambiguous.2012 URL:http:\/\/mayoresearch.mayo.edu\/mayo\/research\/schaid_lab\/software.cfm\/."},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-7-60"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.7.768"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-005-9151-2"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4842"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgm099"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgp207"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.28123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.28123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T16:55:39Z","timestamp":1696352139000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.28123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,13]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1002\/ijc.28123"],"URL":"https:\/\/doi.org\/10.1002\/ijc.28123","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,13]]}}}