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The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer

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dc.contributor.author Gil, Justyna
dc.contributor.author Ramsey, David
dc.contributor.author Stembalska, Agnieszka
dc.contributor.author Karpinski, Pawel
dc.contributor.author Pesz, Karolina A
dc.contributor.author Laczmanska, Izabela
dc.contributor.author Leszczynski, Przemyslaw
dc.contributor.author Grzebieniak, Zygmunt
dc.contributor.author Sasiadek, Maria Malgorzata
dc.date.accessioned 2013-05-20T10:44:13Z
dc.date.available 2013-05-20T10:44:13Z
dc.date.issued 2012
dc.identifier.uri http://hdl.handle.net/10344/3101
dc.description peer-reviewed en_US
dc.description.abstract Background: Epidemiological data show that colorectal cancer (CRC) is the second most frequent malignancy worldwide. The involvement of “minor impact genes” such as XME and DNA-repair genes in the etiology of sporadic cancer has been postulated by other authors. Aim: we focused on analyzing polymorphisms in DNA-repair genes in CRC. We considered the following genes involved in DNA-repair pathways: base excision repair (OGG1 Ser326Cys, XRCC1 Trp194Arg and Arg399Gln); nucleotide excision repair [XPA (- 4)G/A, XPC C/A (i11) and A33512C (Lys939Gln), XPD Asp312Asn and A18911C (Lys751Gln), XPF Arg415Gln, XPG Asp1104His, ERCC1 C118T]; homologous recombination repair [ NBS1 Glu185Gln, Rad51 135G/C, XRCC3 C18067 (Thr241Met)]. Material and methods: The study group consisted of 133 patients diagnosed with sporadic CRC, while the control group was composed of 100 age-matched non-cancer volunteers. Genotyping was performed by PCR and PCR-RFLP. Fisher’s exact test with a Bonferroni correction for multiple testing was used. Results: We found that: i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR is 2.07 (95% CI 1.1391,3.7782) p=0.038], ii) XPD A18911C (Lys751Gln) is associated with decreased risk of CRC [OR=0.4497, (95% CI 0.2215,0,9131) p=0.031] for an individual with at least one A allele at this locus. Conclusions: 1. the XPC C/A (i11) genotype is associated with an increased risk of sporadic colorectal cancer. 2. the NER pathway has been highlighted in our study, as a most important in modulation of individual susceptibility to sCRC. en_US
dc.language.iso eng en_US
dc.publisher Springer-Verlag en_US
dc.relation.ispartofseries Molecular Biology Reports;39(1), pp. 527-534
dc.relation.uri http://dx.doi.org/10.1007/s11033-011-0767-5
dc.rights The original publication is available at www.springerlink.com en_US
dc.subject colorectal cancer (CRC) en_US
dc.subject gene polymorphism en_US
dc.subject individual’s susceptibility to cancer en_US
dc.title The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer en_US
dc.type info:eu-repo/semantics/article en_US
dc.type.supercollection all_ul_research en_US
dc.type.supercollection ul_published_reviewed en_US
dc.contributor.sponsor State Committee for Scientific Research, Polish Ministry for Scientific Research and Information Technology en_US
dc.contributor.sponsor SFI en_US
dc.relation.projectid 1423/P01/2007/32 en_US
dc.relation.projectid 07/MI/012 en_US
dc.rights.accessrights info:eu-repo/semantics/openAccess en_US
dc.internal.rssid 1148223


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