DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population.

作者: Sandra Costa , Daniela Pinto , Deolinda Pereira , Helena Rodrigues , Jorge Cameselle-Teijeiro

DOI: 10.1007/S10549-006-9364-Z

关键词:

摘要: The purpose of this study was to evaluate the role polymorphisms in DNA repair genes as genetic indicators susceptibility familial and sporadic breast cancer. We analysed samples from 285 cancer patients 442 control subjects, for XRCC1Arg399Gln, XPDLys751Gln, RAD51G135C XRCC3Thr241Met using PCR-RFLP. observed that women carriers XRCC1399Gln genotypes without family history have a protective effect concerning disease (OR = 0.54 95% CI 0.35–0.84; p 0.006). Furthermore, we found XRCC3241Met FH an increased 2.21 1.42–3.44; < 0.001). Additionally, verified risk with carrying RAD51135C 2.17 1.19–3.98; 0.012). Our results suggest XRCC1Arg399Gln important biomarkers susceptibility, well as, polymorphism real modifier cases.

参考文章(65)
Margaret R. Karagas, Karl T. Kelsey, Heather H. Nelson, Leila A. Mott, The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. Cancer Research. ,vol. 62, pp. 152- 155 ,(2002)
Kum Kum Khanna, Stephen P. Jackson, DNA double-strand breaks: signaling, repair and the cancer connection. Nature Genetics. ,vol. 27, pp. 247- 254 ,(2001) , 10.1038/85798
Frédéric Coin, Jean-Christophe Marinoni, Carlo Rodolfo, Sébastien Fribourg, Antonia Maria Pedrini, Jean-Marc Egly, Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nature Genetics. ,vol. 20, pp. 184- 188 ,(1998) , 10.1038/2491
Katja Metsola, Vesa Kataja, Pia Sillanpää, Päivi Siivola, Liisa Heikinheimo, Matti Eskelinen, Veli-Matti Kosma, Matti Uusitupa, Ari Hirvonen, XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study. Breast Cancer Research. ,vol. 7, pp. 1- 11 ,(2005) , 10.1186/BCR1333
L Kadouri, Z Kote-Jarai, A Hubert, F Durocher, D Abeliovich, B Glaser, T Hamburger, R A Eeles, T Peretz, A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers British Journal of Cancer. ,vol. 90, pp. 2002- 2005 ,(2004) , 10.1038/SJ.BJC.6601837
Errol C. Friedberg, How nucleotide excision repair protects against cancer Nature Reviews Cancer. ,vol. 1, pp. 22- 33 ,(2001) , 10.1038/35094000
William W Au, Salama A Salama, Carlos H Sierra-Torres, Functional Characterization of Polymorphisms in DNA Repair Genes Using Cytogenetic Challenge Assays Environmental Health Perspectives. ,vol. 111, pp. 1843- 1850 ,(2003) , 10.1289/EHP.6632
William W. Au, Panida Navasumrit, Mathuros Ruchirawat, Use of biomarkers to characterize functions of polymorphic DNA repair genotypes International Journal of Hygiene and Environmental Health. ,vol. 207, pp. 301- 313 ,(2004) , 10.1078/1438-4639-00294
Tadahide Izumi, Lee R. Wiederhold, Gargi Roy, Rabindra Roy, Arun Jaiswal, Kishor K. Bhakat, Sankar Mitra, Tapas K. Hazra, Mammalian DNA base excision repair proteins: Their interactions and role in repair of oxidative DNA damage Toxicology. ,vol. 193, pp. 43- 65 ,(2003) , 10.1016/S0300-483X(03)00289-0
B Jyothish, R Ankathil, R Chandini, B Vinodkumar, G Sunil Nayar, D Dinesh Roy, J Madhavan, M Krishnan Nair, DNA repair proficiency: a potential marker for identification of high risk members in breast cancer families. Cancer Letters. ,vol. 124, pp. 9- 13 ,(1998) , 10.1016/S0304-3835(97)00419-9