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Molecular Cancer
Published in: Molecular Cancer 1/2008

Open Access 01-12-2008 | Research

DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk

Authors: Dominique Bernard-Gallon, Rémy Bosviel, Laetitia Delort, Luc Fontana, Alain Chamoux, Nadège Rabiau, Fabrice Kwiatkowski, Nasséra Chalabi, Samir Satih, Yves-Jean Bignon

Published in: Molecular Cancer | Issue 1/2008

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Abstract

Breast and ovarian cancers increased in the last decades. Except rare cases with a genetic predisposition and high penetrance, these pathologies are viewed as a polygenic disease. In this concept, association studies look for genetic variations such as polymorphisms in low penetrance genes, i.e. genes in interaction with environmental factors. DNA repair systems that protect the genome from deleterious endogenous and exogenous damages have been shown to have significantly reduced. In particular, enzymes of the nucleotide excision repair pathway are suspected to be implicated in cancer. In this study, 2 functional polymorphisms in a DNA repair gene ERCC2 were analyzed. The population included 911 breast cancer cases, 51 ovarian cancer cases and 1000 controls. The genotyping of 2 SNP (Single Nucleotide Polymorphism) was carried out on the population with the MGB (Minor Groove Binder) probe technique which consists of the use of the allelic discrimination with the Taqman® method. This study enabled us to show an increase in risk of breast cancer with no oral contraceptive users and with women exhibiting a waist-to-hip ratio (WHR) > 0.85 for Asn homozygous for ERCC2 312.
Literature
1.
Helzlsouer KJ, Harris EL, Parshad R, Perry HR, Price FM, Sanford KK: DNA repair proficiency: potential susceptiblity factor for breast cancer. J Natl Cancer Inst. 1996, 88: 754-755. 10.1093/jnci/88.11.754CrossRefPubMed
2.
Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM: Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet. 1998, 20: 184-188. 10.1038/2491CrossRefPubMed
3.
Costa S, Pinto D, Pereira D, Vasconcelos A, Afonso-Lopes C, Osorio T, Lopes C, Medeiros R: Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer. Cancer Lett. 2007, 246: 324-330. 10.1016/j.canlet.2006.03.014CrossRefPubMed
4.
Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Harris EL, Sanford KK, Bell DA: XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis. 2000, 21: 551-555. 10.1093/carcin/21.4.551CrossRefPubMed
5.
Tang D, Cho S, Rundle A, Chen S, Phillips D, Zhou J, Hsu Y, Schnabel F, Estabrook A, Perera FP: 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. 2002, 75: 159-166. 10.1023/A:1019693504183CrossRefPubMed
6.
Justenhoven C, Hamann U, Pesch B, Harth V, Rabstein S, Baisch C, Vollmert C, Illig T, Ko YD, Bruning T, Brauch H: ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomarkers Prev. 2004, 13: 2059-2064.PubMed
7.
Mitrunen K, Hirvonen A: Molecular epidemiology of sporadic breast cancer. The role of polymorphic genes involved in oestrogen biosynthesis and metabolism. Mutat Res. 2003, 544: 9-41. 10.1016/S1383-5742(03)00016-4CrossRefPubMed
8.
Dumitrescu RG, Cotarla I: Understanding breast cancer risk -- where do we stand in 2005?. J Cell Mol Med. 2005, 9: 208-221. 10.1111/j.1582-4934.2005.tb00350.xCrossRefPubMed
9.
Bernard-Gallon DJ, De Latour MP, Sylvain V, Vissac C, Aunoble B, Chassagne J, Bignon YJ: Brca1 and Brca2 protein expression patterns in different tissues of murine origin. Int J Oncol. 2001, 18: 271-280.PubMed
10.
Dumitrescu RG, Cotarla I: Understanding breast cancer risk - where do we stand in 2005?. J Cell Mol Med. 2005, 9: 208-221. 10.1111/j.1582-4934.2005.tb00350.xCrossRefPubMed
11.
Innes KE, Byers TE: First pregnancy characteristics and subsequent breast cancer risk among young women. Int J Cancer. 2004, 112: 306-311. 10.1002/ijc.20402CrossRefPubMed
12.
Pathak DR: Dual effect of first full term pregnancy on breast cancer risk: empirical evidence and postulated underlying biology. Cancer Causes Control. 2002, 13: 295-298. 10.1023/A:1015282916368CrossRefPubMed
13.
Russo J, Russo IH: Cellular basis of breast cancer susceptibility. Oncol Res. 1999, 11: 169-178.PubMed
14.
Killick S, Eyong E, Elstein M: Ovarian follicular development in oral contraceptive cycles. Fertil Steril. 1987, 48: 409-413.PubMed
15.
Pelucchi C, Galeone C, Talamini R, Bosetti C, Montella M, Negri E, Franceschi S, La Vecchia C: Lifetime ovulatory cycles and ovarian cancer risk in 2 Italian case-control studies. Am J Obstet Gynecol. 2007, 196 (1): 83 e1-7. 10.1016/j.ajog.2006.06.088.CrossRefPubMed
16.
Rodriguez C, Calle EE, Fakhrabadi-Shokoohi D, Jacobs EJ, Thun MJ: Body mass index, height, and the risk of ovarian cancer mortality in a prospective cohort of postmenopausal women. Cancer Epidemiol Biomarkers Prev. 2002, 11: 822-828.PubMed
17.
Schouten LJ, Goldbohm RA, van den Brandt PA: Height, weight, weight change, and ovarian cancer risk in the Netherlands cohort study on diet and cancer. Am J Epidemiol. 2003, 157: 424-433. 10.1093/aje/kwf224CrossRefPubMed
18.
Hirose K, Tajima K, Hamajima N, Kuroishi T, Kuzuya K, Miura S, Tokudome S: Comparative case-referent study of risk factors among hormone-related female cancers in Japan. Jpn J Cancer Res. 1999, 90: 255-261.CrossRefPubMed
19.
Riman T, Dickman PW, Nilsson S, Correia N, Nordlinder H, Magnusson CM, Persson IR: Risk factors for epithelial borderline ovarian tumors: results of a Swedish case-control study. Gynecol Oncol. 2001, 83: 575-585. 10.1006/gyno.2001.6451CrossRefPubMed
20.
Purdie DM, Bain CJ, Webb PM, Whiteman DC, Pirozzo S, Green AC: Body size and ovarian cancer: case-control study and systematic review (Australia). Cancer Causes Control. 2001, 12: 855-863. 10.1023/A:1012267619561CrossRefPubMed
21.
Calle EE, Rodriguez C, Walker-Thurmond K, Thun MJ: Overweight, obesity, and mortality from cancer in a prospectively studied cohort of U.S. adults. N Engl J Med. 2003, 348: 1625-1638. 10.1056/NEJMoa021423CrossRefPubMed
22.
Farrow DC, Weiss NS, Lyon JL, Daling JR: Association of obesity and ovarian cancer in a case-control study. Am J Epidemiol. 1989, 129: 1300-1304.PubMed
23.
Lubin F, Chetrit A, Freedman LS, Alfandary E, Fishler Y, Nitzan H, Zultan A, Modan B: Body mass index at age 18 years and during adult life and ovarian cancer risk. Am J Epidemiol. 2003, 157: 113-120. 10.1093/aje/kwf184CrossRefPubMed
24.
Engeland A, Tretli S, Bjorge T: Height, body mass index, and ovarian cancer: a follow-up of 1.1 million Norwegian women. J Natl Cancer Inst. 2003, 95: 1244-1248.CrossRefPubMed
25.
Dal Maso L, Franceschi S, Negri E, Conti E, Montella M, Vaccarella S, Canzonieri V, Parazzini F, La Vecchia C: Body size indices at different ages and epithelial ovarian cancer risk. Eur J Cancer. 2002, 38: 1769-1774. 10.1016/S0959-8049(02)00155-7CrossRefPubMed
26.
Fairfield KM, Willett WC, Rosner BA, Manson JE, Speizer FE, Hankinson SE: Obesity, weight gain, and ovarian cancer. Obstet Gynecol. 2002, 100: 288-296. 10.1016/S0029-7844(02)02053-7CrossRefPubMed
27.
Kuper H, Cramer DW, Titus-Ernstoff L: Risk of ovarian cancer in the United States in relation to anthropometric measures: does the association depend on menopausal status?. Cancer Causes Control. 2002, 13: 455-463. 10.1023/A:1015751105039CrossRefPubMed
28.
Wolk A, Gridley G, Svensson M, Nyren O, McLaughlin JK, Fraumeni JF, Adam HO: A prospective study of obesity and cancer risk (Sweden). Cancer Causes Control. 2001, 12: 13-21. 10.1023/A:1008995217664CrossRefPubMed
29.
Moller H, Mellemgaard A, Lindvig K, Olsen JH: Obesity and cancer risk: a Danish record-linkage study. Eur J Cancer. 1994, 30A: 344-350. 10.1016/0959-8049(94)90254-2CrossRefPubMed
30.
Slattery ML, Schuman KL, West DW, French TK, Robison LM: Nutrient intake and ovarian cancer. Am J Epidemiol. 1989, 130: 497-502.PubMed
31.
Anderson JP, Ross JA, Folsom AR: Anthropometric variables, physical activity, and incidence of ovarian cancer: The Iowa Women's Health Study. Cancer. 2004, 100: 1515-1521. 10.1002/cncr.20146CrossRefPubMed
32.
Lukanova A, Toniolo P, Lundin E, Micheli A, Akhmedkhanov A, Muti P, Zeleniuch-Jacquotte A, Biessy C, Lenner P, Krogh V, Berrino F, Hallmans G, Riboli E, Kaaks R: Body mass index in relation to ovarian cancer: a multi-centre nested case-control study. Int J Cancer. 2002, 99: 603-608. 10.1002/ijc.10374CrossRefPubMed
33.
Beehler GP, Sekhon M, Baker JA, Teter BE, McCann SE, Rodabaugh KJ, Moysich KB: Risk of ovarian cancer associated with BMI varies by menopausal status. J Nutr. 2006, 136: 2881-2886.PubMed
34.
Greer JB, Modugno F, Ness RB, Allen GO: Anthropometry and the risk of epithelial ovarian cancer. Cancer. 2006, 106: 2247-2257. 10.1002/cncr.21830CrossRefPubMed
35.
Delort L, Kwiatkowski F, Chalabi N, Satih S, Bignon YJ, Bernard-Gallon DJ: Risk factors for early age at breast cancer onset--the "COSA program" population-based study. Anticancer Res. 2007, 27: 1087-1094.PubMed
36.
Zhang L, Zhang Z, Yan W: Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. Clin Chim Acta. 2005, 359: 150-155. 10.1016/j.cccn.2005.03.047CrossRefPubMed
37.
Livak KJ: Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal. 1999, 14: 143-149.CrossRefPubMed
38.
Kwiatkowski F, Girard M, Hacène K, Berlie J: Sem: a suitable statistical software adaptated for research in oncology. Bull Cancer. 2000, 87: 715-721.PubMed
Metadata
Title
DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk
Authors
Dominique Bernard-Gallon
Rémy Bosviel
Laetitia Delort
Luc Fontana
Alain Chamoux
Nadège Rabiau
Fabrice Kwiatkowski
Nasséra Chalabi
Samir Satih
Yves-Jean Bignon
Publication date
01-12-2008
Publisher
BioMed Central
Published in
Molecular Cancer / Issue 1/2008
Electronic ISSN: 1476-4598
DOI
https://doi.org/10.1186/1476-4598-7-36

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