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01-06-2008 | Original Paper

Polymorphisms of the XRCC1 and XPD Genes and Breast Cancer Risk: A Case-Control Study

Authors: Lívia Kipikašová, Tomáš Wolaschka, Peter Bohuš, Helena Baumohlová, Juraj Bober, Jana Blažejová, Ladislav Mirossay, Marek Šarišský, Andrej Miroššay, Martina Čižmáriková, Dana Potočeková, Ján Mojžiš

Published in: Pathology & Oncology Research | Issue 2/2008

Abstract

The purpose of this case control study was to evaluate the role of X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD) genotypes as genetic indicators of susceptibility to breast cancer (BC). We analysed DNA samples from 114 breast cancer patients and 113 control subjects using polymerase chain reaction–restriction fragment length polymorphism. For the single nucleotide polymorphisms in XRCC1 exon 10 (Arg399Gln, G/A) and XPD exon 23 (Lys751Gln, A/C), no remarkable differences for genotype distribution and allele frequencies were observed between BC group and control group in the study. The genotype frequency for homozygote A/A in XPD exon 6 (Arg156Arg, C/A) were significantly different between BC and control groups (P < 0.0001, odds ratio = 2.14; 95% confidence interval 1.44–3.17). The data indicate a possible role for XPD (Arg156Arg, C/A) polymorphisms in BC susceptibility.

Parkin DM, Bray F, Ferlay J et al (2005) Global cancer statistics. CA Cancer J Clin 55:74–108PubMedCrossRef

Mohrenweiser HW, Jones IM (1998) Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation? Mutat Res 400:15–24PubMed

Shen M, Jones I, Mohrenweiser H (1998) Nonconservative amino acid substitutions variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604–608PubMed

Moullan N, Cox DG, Angele S et al (2003) Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12:1168–1174PubMed

Duell EJ, Millikan RC, Pittman GS et al (2001) Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev 10:217–222PubMed

Benhamou S, Sarasin A (2002) ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 6:463–469CrossRef

Stary A, Sarasin A (2001) ERCC2 (Excision repair cross-complementing rodent repair deficiency, complementation group 2). Atlas Genet Cytogenet Oncol Haematol. http://www.infobiogen.fr/services/chromcancer/Genes/XPDID297.html

Miller S, Dykes D, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRef

Lunn RM, Langlois RG, Hsieh LL et al (1999) XRCC1 polymorphism: effect on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 59:2557–2561PubMed

10.

Dybdahl M, Vogel U, Frentz G et al (1999) Polymorphisms in the DNA repair gene XPD: Correlations with risk and age at onset of basal cell carcinoma. Cancer Epidemiol Biomarkers Prev 8:77–81PubMed

11.

Savas S, Kim DY, Ahmad MF et al (2004) Identifying functional genetic variants in DNA repair pathway using protein conservation analysis. Cancer Epidemiol Biomarkers Prev 13:801–807PubMed

12.

Butkiewicz D, Rusin M, Enewold L et al (2001) Genetic polymorphisms in DNA repair genes and risk of lung cancer. Carcinogenesis 22:593–597PubMedCrossRef

13.

Olshan AF, Watson MA, Weissler MC et al (2002) XRCC1 polymorphisms and head and neck cancer. Cancer Lett 178:181–186PubMedCrossRef

14.

Stern MC, Umbach DM, van Gils CH et al (2001) DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk. Cancer Epidemiol Biomarkers Prev 10:125–131PubMed

15.

van Gils CH, Bostick RM, Stern MC et al (2002) Differences in base excision repair capacity may modulate the effect of dietary antioxidant intake on prostate cancer risk: an example of polymorphisms in the XRCC1 gene. Cancer Epidemiol Biomarkers Prev 11:1279–1284PubMed

16.

Chacko P, Rajan B, Joseph T et al (2005) Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat 89:15–21PubMedCrossRef

17.

Smith TR, Miller MS, Lohman K et al (2003) Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Lett 190:183–190PubMedCrossRef

18.

Brewster AM, Jorgensen TJ, Ruczinski I 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 95:73–80PubMedCrossRef

19.

Thyagarajan B, Anderson KE, Folsom AR et al (2006) No association between XRCC1 and XRCC3 gene polymorphisms and breast cancer risk: Iowa Women’s Health Study. Cancer Detect Prev 30:313–321PubMedCrossRef

20.

Zhang Y, Newcomb PA, Egan KM et al (2006) Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 15:353–358PubMedCrossRef

21.

Matullo G, Guarrera S, Carturan S et al (2001) DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer 92:562–567PubMedCrossRef

22.

Winsey SL, Haldar NA, Marsh HP et al (2000) A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 60:5612–5616PubMed

23.

Forsti A, Angelini S, Festa F et al (2004) Single nucleotide polymorphisms in breast cancer. Oncol Rep 11:917–922PubMed

24.

Metsola K, Kataja V, Sillanpaa P et al (2005) XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study. Breast Cancer Res 6:R987–R997CrossRef

25.

Nexo BA, Vogel U, Olsen A et al (2003) A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55. Carcinogenesis 24:899–904PubMedCrossRef

26.

Justenhoven C, Hamann U, Pesch B et al (2004) ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomarkers Prev 13:2059–2064PubMed

27.

Tang D, Cho S, Rundle A et al (2002) Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. Breast Cancer Res Treat 75:159–166PubMedCrossRef

28.

Shi Q, Wang LE, Bondy ML et al (2004) Reduced DNA repair of benzo(a)pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. Carcinogenesis 25:1695–1700PubMedCrossRef

29.

Dufloth RM, Costa S, Schmitt F et al (2005) DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil. Genet Mol Res 4:771–782PubMed

30.

Terry MB, Gammon MD, Zhang FF et al (2004) Polymorphism in the DNA repair gene XPD, polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, and breast cancer risk. Cancer Epidemiol Biomarkers Prev 13:2053–2058PubMed

31.

Caggana M, Kilgallen J, Conroy JM et al (2001) Associations between ERCC2 polymorphisms and gliomas. Cancer Epidemiol Biomarkers Prev 10:355–360PubMed

Title: Polymorphisms of the XRCC1 and XPD Genes and Breast Cancer Risk: A Case-Control Study
Authors: Lívia Kipikašová
Tomáš Wolaschka
Peter Bohuš
Helena Baumohlová
Juraj Bober
Jana Blažejová
Ladislav Mirossay
Marek Šarišský
Andrej Miroššay
Martina Čižmáriková
Dana Potočeková
Ján Mojžiš
Publication date: 01-06-2008
Publisher: Springer Netherlands
Published in: Pathology & Oncology Research / Issue 2/2008
Print ISSN: 1219-4956
Electronic ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-008-9034-z

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