Risk-association of CYP11A1 polymorphisms and breast cancer among han Chinese women in Southern China

International Journal of Molecular Sciences

Volumn 13, Issue 4, 2012, Pages 4896-4905

  Sun, Minying ^a   Yang, Xuexi ^a   Ye, Changsheng ^a   Xu, Weiwen ^a   Yao, Guangyu ^a   Chen, Jun ^a   Li, Ming ^a,b  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

Author keywords

Breast cancer; Cyp11a1; Single nucleotide polymorphism (SNP); Susceptibility

Indexed keywords

ADENINE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CYTOSINE; GUANINE; THYMINE; SEX HORMONE;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHINA; CHINESE; CODOMINANCE; CONTROLLED STUDY; CYP11A1 GENE; DOMINANT INHERITANCE; ENZYME POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAN CHINESE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; PATHOGENESIS; RECESSIVE INHERITANCE; RISK FACTOR; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BIOSYNTHESIS; BREAST TUMOR; CASE CONTROL STUDY; ETHNIC GROUP; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; RISK; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHINA; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; ETHNIC GROUPS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GONADAL STEROID HORMONES; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; YOUNG ADULT;

EID: 84860137831     PISSN: None     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms13044896     Document Type: Article

References (29)

1. Leong, S.P.; Shen, Z.Z.; Liu, T.J.; Agarwal, G.; Tajima, T.; Paik, N.S.; Sandelin, K.; Derossis, A.; Cody, H.; Foulkes, W.D. Is breast cancer the same disease in Asian and Western countries? World J. Surg. 2010, 34, 2308-2324.
2. Mavaddat, N.; Antoniou, A.C.; Easton, D.F.; Garcia-Closas, M. Genetic susceptibility to breast cancer. Mol. Oncol. 2010, 4, 174-191.
3. Begg, C.B.; Haile, R.W.; Borg, A.; Malone, K.E.; Concannon, P.; Thomas, D.C.; Langholz, B.; Bernstein, L.; Olsen, J.H.; Lynch, C.F., et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008, 299, 194-201.
4. Campeau, P.M.; Foulkes, W.D.; Tischkowitz, M.D. Hereditary breast cancer: New genetic developments, new therapeutic avenues. Hum. Genet. 2008, 124, 31-42.
5. CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9065 controls from 10 studies. Am. J. Hum. Genet. 2004, 74, 1175-1182.
6. Rahman, N.; Seal, S.; Thompson, D.; Kelly, P.; Renwick, A.; Elliott, A.; Reid, S.; Spanova, K.; Barfoot, R.; Chagtai, T., et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 2007, 39, 165-167.
7. Seal, S.; Thompson, D.; Renwick, A.; Elliott, A.; Kelly, P.; Barfoot, R.; Chagtai, T.; Jayatilake, H.; Ahmed, M.; Spanova, K., et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 2006, 38, 1239-1241.
8. King, M.C.; Marks, J.H.; Mandell, J.B. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302, 643-646.
9. Fletcher, O.; Johnson, N.; Orr, N.; Hosking, F.J.; Gibson, L.J.; Walker, K.; Zelenika, D.; Gut, I.; Heath, S.; Palles, C., et al. Novel breast cancer susceptibility locus at 9q31.2: Results of a genome-wide association study. J. Nat. Cancer Inst. 2011, 103, 425-435.
10. Li, J.; Humphreys, K.; Heikkinen, T.; Aittomäki, K.; Blomqvist, C.; Pharoah, P.D.; Dunning, A.M.; Ahmed, S.; Hooning, M.J.; Martens, J.W., et al. A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res. Treat. 2011, 126, 717-727.
11. Long, J.; Cai, Q.; Sung, H.; Shi, J.; Zhang, B.; Choi, J.Y.; Wen, W.; Delahanty, R.J.; Lu, W.; Gao, Y.T., et al. Genome-wide association study in East asians identifies novel susceptibility Loci for breast cancer. PLoS Genet. 2012, 8, doi:10.1371/journal.pgen.1002532.
12. Turnbull, C.; Ahmed, S.; Morrison, J.; Pernet, D.; Renwick, A.; Maranian, M.; Seal, S.; Ghoussaini, M.; Hines, S.; Healey, C.S., et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat. Genet. 2010, 42, 504-507.
13. Thomas, G.; Jacobs, K.B.; Kraft, P.; Yeager, M.; Wacholder, S.; Cox, D.G.; Hankinson, S.E.; Hutchinson, A.; Wang, Z.; Yu, K., et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat. Genet. 2009, 41, 579-584.
14. Key, T.; Appleby, P.; Barnes, I.; Reeves, G. Endogenous sex hormones and breast cancer in postmenopausal women: Reanalysis of nine prospective studies. J. Nat. Cancer Inst. 2002, 94, 606-616.
15. Folkerd, E.J.; Martin, L.A.; Kendall, A.; Dowsett, M. The relationship between factors affecting endogenous oestradiol levels in postmenopausal women and breast cancer. J. Steroid Biochem. Mol. Biol. 2006, 102, 250-255.
16. Sakoda, L.C.; Blackston, C.; Doherty, J.A.; Ray, R.M.; Lin, M.G.; Stalsberg, H.; Gao, D.L.; Feng, Z.; Thomas, D.B.; Chen, C. Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women. Cancer Epidem. Biomarker. Prev. 2008, 17, 1066-1073.
17. Zheng, W.; Gao, Y.T.; Shu, X.O.; Wen, W.; Cai, Q.; Dai, Q.; Smith, J.R. Population-based case-control study of CYP11A gene polymorphism and breast cancer risk. Cancer Epidem. Biomarker. Prev. 2004, 13, 709-714.
18. Setiawan, V.W.; Cheng, I.; Stram, D.O.; Giorgi, E.; Pike, M.C.; Van den Berg, D.; Pooler, L.; Burtt, N.P.; Le Marchand, L.; Altshuler, D., et al. A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Res. 2006, 66, 12019-12025.
19. Yaspan, B.L.; Breyer, J.P.; Cai, Q.; Dai, Q.; Elmore, J.B.; Amundson, I.; Bradley, K.M.; Shu, X.O.; Gao, Y.T.; Dupont, W.D., et al. Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk. Cancer Res. 2007, 67, 5673-5682.
20. Payne, A.H.; Hales, D.B. Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones. Endocr. Rev. 2004, 25, 947-970.
21. Gao, G.H.; Cao, Y.X.; Yi, L.; Wei, Z.L.; Xu, Y.P.; Yang, C. Polymorphism of CYP11A1 gene in Chinese patients with polycystic ovarian syndrome. Chin. J. Obstet. Gynecol. 2010, 45, 191-196.
22. Celhar, T.; Gersak, K.; Ovcak, Z.; Sedmak, B.; Mlinaric-Rascan, I. The presence of the CYP11A1 (TTTTA)6 allele increases the risk of biochemical relapse in organ confined and low-grade prostate cancer. Cancer Genet. Cytogenet. 2008, 187, 28-33.
23. Kumazawa, T.; Tsuchiya, N.; Wang, L.; Sato, K.; Kamoto, T.; Ogawa, O.; Nakamura, A.; Kato, T.; Habuchi, T. Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer. Int. J. Cancer. 2004, 110, 140-144.
24. Terry, K.; McGrath, M.; Lee, I.M.; Buring, J.; de Vivo, I. Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk. Gynecol. Oncol. 2010, 117, 255-259.
25. Henderson, B.E.; Feigelson, H.S. Hormonal carcinogenesis. Carcinogenesis 2000, 21, 427-433.
26. Boyd, N.F.; Martin, L.J.; Yaffe, M.J.; Minkin, S. Mammographic density: A hormonally responsive risk factor for breast cancer. J. Br. Menopause Soc. 2006, 12, 186-193.
27. Li, J.; Eriksson, L.; Humphreys, K.; Czene, K.; Liu, J.; Tamimi, R.M.; Lindström, S.; Hunter, D.J.; Vachon, C.M.; Couch, F.J., et al. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. Breast Cancer Res. 2010, 12, doi:10.1186/bcr2488.
28. Miyaki, K.; Htun, N.C.; Song, Y.; Ikeda, S.; Muramatsu, M.; Shimbo, T. The combined impact of 12 common variants on hypertension in Japanese men, considering GWAS results. J. Hum. Hypertension 2011, doi:10.1038/jhh.2011.50. Available online: http://www.nature.com/jhh/journal/vaop/ncurrent/abs/jhh201150a.html (accessed on 23 March 2012).
29. Solé, X.; Guinó, E.; Valls, J.; Iniesta, R.; Moreno, V. SNPStats: A web tool for the analysis of association studies. Bioinformatics 2006, 22, 1928-1929.