Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland

被引：13
作者：
Smolarz, Beata [1 ]
Brys, Magdalena [2 ]
Forma, Ewa [2 ]
Zadrozny, Marek [3 ]
Bienkiewicz, Jan [4 ]
Romanowicz, Hanna [1 ]
机构：
[1] Inst Polish Mothers Mem Hosp, Dept Pathol, Lab Canc Genet, Rzgowska 281-289, PL-93338 Lodz, Poland
[2] Univ Lodz, Fac Biol & Environm Protect, Dept Cytobiochem, Pomorska 141-143, PL-90237 Lodz, Poland
[3] Polish Mothers Mem Hosp, Res Inst, Dept Oncol Surg & Breast Dis, Rzgowska 281-289, PL-93338 Lodz, Poland
[4] Polish Mothers Mem Hosp, Res Inst, Dept Surg & Endoscop, Gynecol & Gynecol Oncol, Rzgowska 281-289, PL-93338 Lodz, Poland
来源：
PATHOLOGY & ONCOLOGY RESEARCH | 2019年 / 25卷 / 04期
关键词：
DNA repair; Single nucleotide polymorphism; Breast cancer; HOMOLOGOUS RECOMBINATION; DAMAGE; EUROPE; RAD51; ASSOCIATION; SURVIVAL; PATTERNS; CARRIERS; XPD; END;
D O I：
10.1007/s12253-017-0370-8
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Single nucleotide polymorphisms (SNPs) may modify the risk of cancer. They may be then regarded as potential markers of carcinogenesis. The aim of this study was to analyze the frequency of genotypes and alleles of SNPs in DNA repair genes and to investigate the influence this genetic variation exerts on breast cancer in Polish females. The test group comprised 600 females with breast cancer and 600 healthy controls. Genomic DNA was isolated and the SNPs in DNA repair genes were determined by High-Resolution Melter (HRM) technique. Following polymorphisms were analysed: Arg399Gln (rs25487) of the XRCC1, Gly322Asp (rs4987188) of the hMSH2, Lys751Gln (rs13181) of the XPD, Arg188His (rs3218536) of the XRCC2, P871L (rs799917) of the BRCA1 and N372H (rs144848) of the BRCA2 gene. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. The alleles XRCC1-Gln (OR 5.11; 95% CI 5.68-11.64, p < .0001), hMSH2-Asp (OR 4.66; 95% CI 3.90-5.56, p < .0001), XPD-Gln (OR 2.65; 95% CI 2.24-3.14, p < .0001) and BRCA1-L (OR 1.45; 95% CI 1.24-1.71, p < .0001) genes were strongly correlated with this malignancy. No correlation was found between the studied SNPs and tumor grading nor the lymph node status. Further research on larger groups is warranted to determine the influence of above-mentioned genetic variants on breast cancer risk.
引用
收藏
页码：1311 / 1317
页数：7
相关论文
共 31 条
[1]   Subtyping of Triple-Negative Breast Cancer: Implications for Therapy [J].
Abramson, Vandana G. ;
Lehmann, Brian D. ;
Ballinger, Tarah J. ;
Pietenpol, Jennifer A. .
CANCER, 2015, 121 (01) :8-16
[2]   Polymorphisms and mutations in GSTP1, RAD51, XRCC1 and XRCC3 genes in breast cancer patients [J].
Al Zoubi, Mazhar Salim ;
Zavaglia, Katia ;
Mazanti, Chiara ;
Al Hamad, Mohammad ;
Al Batayneh, Khalid ;
Aljabali, Alaa A. A. ;
Bevilacqua, Generoso .
INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS, 2017, 32 (03) :E337-E343
[3]   RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers:: Results from a combined analysis of 19 studies [J].
Antoniou, Antonis C. ;
Sinilnikova, Olga M. ;
Simard, Jacques ;
Leone, Melanie ;
Dumont, Martine ;
Neuhausen, Susan L. ;
Struewing, Jeffery P. ;
Stoppa-Lyonnet, Dominique ;
Barjhoux, Laure ;
Hughes, David J. ;
Coupier, Isabelle ;
Belotti, Muriel ;
Lasset, Christine ;
Rebbeck, Timothy R. ;
Wagner, Theresa ;
Lynch, Henry T. ;
Domchek, Susan M. ;
Nathanson, Katherine L. ;
Garber, Judy E. ;
Weitzel, Jeffrey ;
Narod, Steven A. ;
Tomlinson, Gail ;
Olopade, Olufunmilayo I. ;
Godwin, Andrew ;
Isaacs, Claudine ;
Jakubowska, Anna ;
Lubinski, Jan ;
Gronwald, Jacek ;
Gorski, Bohdan ;
Byrski, Tomasz ;
Huzarski, Tomasz ;
Peock, Susan ;
Cook, Margaret ;
Baynes, Caroline ;
Murray, Alexandra ;
Rogers, Mark ;
Daly, Peter A. ;
Dorkins, Huw ;
Schmutzler, Rita K. ;
Versmold, Beatrix ;
Engel, Christoph ;
Meindl, Alfons ;
Arnold, Norbert ;
Niederacher, Dieter ;
Deissler, Helmut ;
Spurdle, Amanda B. ;
Chen, Xiaoqing ;
Waddell, Nicola ;
Cloonan, Nicole ;
Kirchhoff, Tomas .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (06) :1186-1200
[4]  
Bansidhar Brian J, 2012, Clin Colon Rectal Surg, V25, P103, DOI 10.1055/s-0032-1313781
[5]   EUROCARE-3 summary: cancer survival in Europe at the end of the 20th century [J].
Coleman, M. P. ;
Gatta, G. ;
Verdecchia, A. ;
Esteve, J. ;
Sant, M. ;
Storm, H. ;
Allemani, C. ;
Ciccolallo, L. ;
Santaquilani, M. ;
Berrino, F. .
ANNALS OF ONCOLOGY, 2003, 14 :V128-V149
[6]   DNA damage and breast cancer [J].
Davis, Jennifer D. ;
Lin, Shiaw-Yih .
WORLD JOURNAL OF CLINICAL ONCOLOGY, 2011, 2 (09) :329-338
[7]   Cancer Risks for MLH1 and MSH2 Mutation Carriers [J].
Dowty, James G. ;
Win, Aung K. ;
Buchanan, Daniel D. ;
Lindor, Noralane M. ;
Macrae, Finlay A. ;
Clendenning, Mark ;
Antill, Yoland C. ;
Thibodeau, Stephen N. ;
Casey, Graham ;
Gallinger, Steve ;
Le Marchand, Loic ;
Newcomb, Polly A. ;
Haile, Robert W. ;
Young, Graeme P. ;
James, Paul A. ;
Giles, Graham G. ;
Gunawardena, Shanaka R. ;
Leggett, Barbara A. ;
Gattas, Michael ;
Boussioutas, Alex ;
Ahnen, Dennis J. ;
Baron, John A. ;
Parry, Susan ;
Goldblatt, Jack ;
Young, Joanne P. ;
Hopper, John L. ;
Jenkins, Mark A. .
HUMAN MUTATION, 2013, 34 (03) :490-497
[8]   Cancer incidence and mortality patterns in Europe: Estimates for 40 countries in 2012 [J].
Ferlay, J. ;
Steliarova-Foucher, E. ;
Lortet-Tieulent, J. ;
Rosso, S. ;
Coebergh, J. W. W. ;
Comber, H. ;
Forman, D. ;
Bray, F. .
EUROPEAN JOURNAL OF CANCER, 2013, 49 (06) :1374-1403
[9]   Survival patterns in lung and pleural cancer in Europe 1999-2007: Results from the EUROCARE-5 study [J].
Francisci, Silvia ;
Minicozzi, Pamela ;
Pierannunzio, Daniela ;
Ardanaz, Eva ;
Eberle, Andrea ;
Grimsrud, Tom K. ;
Knijn, Arnold ;
Pastorino, Ugo ;
Salmeron, Diego ;
Trama, Annalisa ;
Sant, Milena .
EUROPEAN JOURNAL OF CANCER, 2015, 51 (15) :2242-2253
[10]   Changes in DNA repair during aging [J].
Gorbunova, Vera ;
Seluanov, Andrei ;
Mao, Zhiyong ;
Hine, Christpher .
NUCLEIC ACIDS RESEARCH, 2007, 35 (22) :7466-7474
1234