{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T05:46:48Z","timestamp":1761630408804},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T00:00:00Z","timestamp":1146096000000},"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":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There are more than 50 subtypes of soft tissue sarcomas, among which 30% are associated with specific genetic alterations, including translocations. Several studies have reported associations between cancer risk and polymorphisms of DNA repair genes from the nucleotide excision repair (NER) pathway. NER involves more than 20 proteins whose inactivation leads to xeroderma pigmentosum (XP) or cockayne syndrome (CS), among which XPD, a helicase allowing DNA strand excision by the endonuclease XPG. DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms. Departure from Hardy\u2010Weinberg was highly significant for the XPG polymorphism with an excess of heterozygotes in synovial sarcomas (<jats:italic>p<\/jats:italic> = 1.5 \u00d7 10<jats:sup>\u22125<\/jats:sup>), myxoid liposarcomas (<jats:italic>p<\/jats:italic> = 1.5 \u00d7 10<jats:sup>\u22124<\/jats:sup>) and to a lesser extent in DFSP (<jats:italic>p<\/jats:italic> = 0.028). In the case of XPD, a significant deviation was observed in synovial sarcomas (<jats:italic>p<\/jats:italic> = 3 \u00d7 10<jats:sup>\u22126<\/jats:sup>) and DFSP (<jats:italic>p<\/jats:italic> = 0.0014). When tumors were pooled according to their genetic alterations, the proportion of carriers of the variant XPG allele was significantly increased in sarcomas with specific translocations as compared to sarcomas with complex genetics (<jats:italic>p<\/jats:italic> &lt; 10<jats:sup>\u22129<\/jats:sup>). No difference was found for XPD. Genotyping of the tumor samples in synovial sarcomas and myxoid liposarcomas revealed frequent loss of heterozygosity for XPG, mostly due to the loss of the frequent allele. For XPD, both alleles were lost with a similar frequency. Our results raise the potential implication of the XPG Asp1104His polymorphism in the occurrence of chromosomal translocations associated with specific subtypes of sarcomas. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.22009","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T23:00:08Z","timestamp":1146178808000},"page":"1732-1735","source":"Crossref","is-referenced-by-count":15,"title":["Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients"],"prefix":"10.1002","volume":"119","author":[{"given":"Val\u00e9rie","family":"Le Morvan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Longy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Bona\u00efti\u2010Pelli\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binh","family":"Bui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Hou\u00e9d\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Michel","family":"Coindre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Robert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Pourquier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/35094000"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(00)00032-6"},{"key":"e_1_2_5_4_2","first-page":"1054","article-title":"Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans","volume":"11","author":"Mohrenweiser HW","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwi018"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/22.6.899"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/23.4.599"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgh064"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10870"},{"key":"e_1_2_5_10_2","volume-title":"Pathology and genetics of tumors of soft tissue and bone","author":"Fletcher CDM","year":"2002"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019606-200203000-00004"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-5002(01)00447-0"},{"key":"e_1_2_5_13_2","first-page":"1377","article-title":"Gene\u2010environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking exposure in lung cancer","volume":"62","author":"Zhou W","year":"2002","journal-title":"Cancer Res"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.01.027"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6601385"},{"key":"e_1_2_5_16_2","doi-asserted-by":"crossref","first-page":"2053","DOI":"10.1158\/1055-9965.2053.13.12","article-title":"Polymorphism in the DNA repair gene XPD, polycyclic aromatic hydrocarbon\u2010DNA adducts, cigarette smoking, and breast cancer risk","volume":"13","author":"Terry MB","year":"2004","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgg120"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M003343200"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00425-7"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199811)23:3<213::AID-GCC2>3.0.CO;2-4"},{"key":"e_1_2_5_21_2","doi-asserted-by":"crossref","unstructured":"van OosteromA MakiR TaronM SciotR Fernandez Sousa\u2010FaroJM TerceroJC JimenoJ RosellR.Impact of the DNA repair efficiency in the outcome of sarcoma patients treated with ET\u2010743 (Yondelis). 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