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05.10.2017 | Original Article

Genetic Variations of DNA Repair Genes in Breast Cancer

verfasst von: Asuman Özgöz, Kuyaş Hekimler Öztürk, Ayşegül Yükseltürk, Hale Şamlı, Zuhal Başkan, Fadime Mutlu İçduygu, Mehmet Bacaksız

Erschienen in: Pathology & Oncology Research | Ausgabe 1/2019

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Abstract

Genetic variations in DNA repair genes may affect DNA repair capacity therefore increase risk for cancer. In our study, we evaluted the relation between DNA repair gene polymorphisms XRCC1 rs1799782, rs25487, rs25489; XPC rs2228000, rs2228001; XPD rs1799793, rs13181; XRCC3 rs861539; RAD51B rs10483813, rs1314913 and breast cancer risk for 202 Turkish cases in total, in which 102 patients with breast cancer and 100 controls. Genotyping of the DNA samples was carried out by multiplex PCR and matrix-assisted laser desorption/ionization mass spectrometry with time of flight measurement (MALDI-TOF) using Sequenom MassARRAY 4 analyzer. Genotype and allele distributions were calculated between the groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported. rs25487 AA genotype and A allele was found to be increased in the control group (respectively, OR 0.16 95% CI 0.02–1.06, p = 0.058; OR 1.55, 95% CI 1.01–2.36, p = 0.043) and rs861539 T allele was found to be decreased in the patient group (OR 1.53, 95% CI 1.01–2.30, p = 0.049). No association with breast cancer was found for the remaining SNPs. Our findings suggest that XRCC1 rs25487 AA genotype and A allele, XRCC3 rs861539 T allele may have protective effects in breast cancer for Turkish population.

Deligezer U, Dalay N (2004) Association of the XRCC1 gene polymorphisms with cancer risk in Turkish breast cancer patients. Exp Mol Med 36(6):572–575CrossRefPubMed

Patrono C, Sterpone S, Testa A, Cozzi R (2014) Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity. World J Clin Oncol 5(5):874–882CrossRefPubMedPubMedCentral

Shadrina AS, Ermolenko NA, Boyarskikh UA, Sinkina TV, Lazarev AF, Petrova VD et al (2016) Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study. Clin Exp Med 16(1):21–28CrossRefPubMed

AlMutairi F, Pathan AA, Alanazi M, Shalaby M, Alabdulkarim HA, Alamri A et al (2015) Association of DNA repair gene APE1 Asp148Glu polymorphism with breast cancer risk. Dis Markers. https://doi.org/10.1155/2015/869512

Wood RD, Mitchell M, Lindahl T (2005) Human DNA repair genes. Mutat Res 577:275–283CrossRefPubMed

Oeth P, del Mistro G, Marnellos G, Shi T, van den Boom D (2009) Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MassARRAY). Methods Mol Biol 578:307–343CrossRefPubMed

Goode EL, Ulrich CM, Potter JD (2002) Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomark Prev 11(12):1513–1530

Feng YZ, Liu YL, He XF, Wei W, Shen XL, Xie DL (2014) Association between the XRCC1 Arg194Trp polymorphism and risk of cancer: evidence from 201 case-control studies. Tumour Biol 35(11):10677–10697CrossRefPubMed

Al Mutairi FM, Alanazi M, Shalaby M, Alabdulkarim HA, Pathan AA, Parine NR (2013) Association of XRCC1 gene polymorphisms with breast cancer susceptibility in Saudi patiens. Asian Pac J Cancer Prev 14(6):3809–3813CrossRefPubMed

10.

Przybylowska-Sygut K, Stanczyk M, Kusinska R, Kordek R, Majsterek I (2013) Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer. Clin Breast Cancer 13(1):61–68CrossRefPubMed

11.

Smith TR, Miller MS, Lohman K, Lange EM, Case LD, Mohrenweiser HW et al (2003) Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Let 190(2):183–190CrossRef

12.

Moullan N, Cox DG, Angèle S, Romestaing P, Gérard JP, Hall J (2003) Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomark Prev 12(11 Pt 1):1168–1174

13.

Saadat M, Kohan L, Omidvari S (2008) Genetic polymorphisms of XRCC1 (codon 399) and susceptibility to breast cancer in Iranian women, a case-control study. Breast Cancer Res Treat 111(3):549–553CrossRefPubMed

14.

Kim SU, Park SK, Yoo KY, Yoon KS, Choi JY, Seo JS et al (2002) XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics 12(4):335–338CrossRefPubMed

15.

Loizidou MA, Michael T, Neuhausen SL, Newbold RF, Marcou Y, Kakouri E et al (2008) Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus. Breast Cancer Res Treat 112(3):575–579CrossRefPubMed

16.

Thyagarajan B, Anderson KE, Folsom AR, Jacobs DR Jr, Lynch CF, Bargaje A et al (2006) No association between XRCC1 and XRCC3 gene polymorphisms and breast cancer risk: Iowa Women's HealthStudy. Cancer Detect Prev 30(4):313–321CrossRefPubMed

17.

Lu J, Zhao H, Li S, Tian Z, Zhu X, Wang H et al (2015) Correlation of rs1799793 polymorphism in ERCC2 and the clinical response to platinum-based chemotherapy in patients with triple negative breast cancer. Int J Clin Exp Med 8(2):2934–2938PubMedPubMedCentral

18.

Brewster AM, Jorgensen TJ, Ruczinski I, Huang HY, Hoffman S, Thuita L et al (2006) Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. Breast Cancer Res Treat 95(1):73–80CrossRefPubMed

19.

Smolarz B, Makowska M, Samulak D, Michalska MM, Mojs E, Wilczak M et al (2014) Single nucleotide polymorphisms (SNPs) of ERCC2, hOGG1, and XRCC1 DNA repair genes and the risk of triple-negative breast cancer in Polish women. Tumour Biol 35(4):3495–3502CrossRefPubMedPubMedCentral

20.

Parshad R, Sanford KK (2001) Radiation-induced chromatid breaks and deficient DNA repair in cancer predisposition. Crit Rev Oncol Hematol 37(2):87–96CrossRefPubMed

21.

Breast Cancer Association Consortium (2006) Commonly studied singlenucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 98:1382–1396CrossRef

22.

Ali AM, AbdulKareem H, Al Anazi M, Reddy Parine N, Shaik JP, Alamri A et al (2016) Polymorphisms in DNA repair gene XRCC3 and susceptibility to breast cancer in Saudi females. Biomed Res Int https://doi.org/10.1155/2016/8721052

23.

Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM et al (2002) Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 11(12):1399–1407CrossRefPubMed

24.

Su CH, Chang WS, Hu PS, Hsiao CL, Ji HX, Liao CH et al (2015) Contribution of DNA double-strand break repair gene XRCC3 genotypes to triple negative breast cancer risk. Cancer Genomics Proteomics 12(6):359–367PubMed

25.

Romanowicz-Makowska H, Smolarz B, Zadrozny M, Westfal B, Baszczynski J, Polac I et al (2011) Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women. Tohoku J Exp Med 224(3):201–208CrossRefPubMed

26.

Vral A, Willems P, Claes K, Poppe B, Perletti G, Thierens H (2011) Combined effect of polymorphisms in Rad51 and Xrcc3 on breast cancer risk and chromosomal radiosensitivity. Mol Med Rep 4(5):901–912PubMed

27.

Al Zoubi MS (2015) X-ray repair cross-complementing protein 1 and 3 polymorphisms and susceptibility of breast cancer in a Jordanian population. Saudi Med J 36(10):1163–1167CrossRefPubMedPubMedCentral

28.

Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J et al (2012) Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomark Prev 21(7):1156–1166CrossRef

29.

Bhatti P, Doody MM, Rajaraman P, Alexander BH, Yeager M, Hutchinson A et al (2010) Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. Radiat Res 173(2):214–224CrossRefPubMedPubMedCentral

30.

Li SX, Sjolund A, Harris L, Sweasy JB (2010) DNA repair and personalized breast cancer therapy. Environ Mol Mutagen 51(8–9):897–908CrossRefPubMedPubMedCentral

31.

Zhou Q, Zou BW, Xu Y, Xue JX, Meng MB, Liu FJ et al (2015) DNA repair gene polymorphisms and clinical outcome of patients with primary small cell carcinoma of the esophagus. Tumour Biol 36(3):1539–1548CrossRefPubMed

32.

Quintela-Fandino M, Hitt R, Medina PP, Gamarra S, Manso L, Cortes-Funes H et al (2006) DNA-repair gene polymorphisms predict favorable clinical outcome among patients with advanced squamous cell carcinoma of the head and neck treated with cisplatin-based induction chemotherapy. J Clin Oncol 24(26):4333–4339CrossRefPubMed

33.

Kalikaki A, Kanaki M, Vassalou H, Souglakos J, Voutsina A, Georgoulias V et al (2009) DNA repair gene polymorphisms predict favorable clinical outcome in advanced non-small-cell lung cancer. Clin Lung Cancer 10(2):118–123CrossRefPubMed

Titel: Genetic Variations of DNA Repair Genes in Breast Cancer
verfasst von: Asuman Özgöz
Kuyaş Hekimler Öztürk
Ayşegül Yükseltürk
Hale Şamlı
Zuhal Başkan
Fadime Mutlu İçduygu
Mehmet Bacaksız
Publikationsdatum: 05.10.2017
Verlag: Springer Netherlands
Erschienen in: Pathology & Oncology Research / Ausgabe 1/2019
Print ISSN: 1219-4956
Elektronische ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-017-0322-3

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