Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Long, Jirong ^a   Zhang, Ben ^a   Signorello, Lisa B ^a,b   Cai, Qiuyin ^a   Deming Halverson, Sandra ^a   Shrubsole, Martha J ^a   Sanderson, Maureen ^c   Dennis, Joe ^d   Michailiou, Kyriaki ^d   Easton, Douglas F ^d   Shu, Xiao Ou ^a   Blot, William J ^a,b   Zheng, Wei ^a  

^a VANDERBILT INGRAM CANCER CENTER   (United States)

^b INTERNATIONAL EPIDEMIOLOGY INSTITUTE   (United States)

^c MEHARRY MEDICAL COLLEGE   (United States)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

ADULT; AFRICAN AMERICAN; ARTICLE; BREAST CANCER; CANCER CLASSIFICATION; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; HUMAN; MAJOR CLINICAL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN AMERICANS; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84875983273     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0058350     Document Type: Article

References (40)

1. Fejerman L, Haiman CA, Reich D, Tandon A, Deo RC, et al. (2009) An admixture scan in 1,484 African American women with breast cancer. Cancer Epidemiol Biomarkers Prev 18 3110-3117: 1055-9965.
2. Reding KW, Carlson CS, Kahsai O, Chen CC, McDavid A, et al. (2012) Examination of ancestral informative markers and self-reported race with tumor characteristics of breast cancer among black and white women. Breast Cancer Res Treat 134: 801-809.
3. Zhang B, Beeghly-Fadiel A, Long J, Zheng W, (2011) Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 12: 477-488.
4. Nathanson KL, Wooster R, Weber BL, (2001) Breast cancer genetics: what we know and what we need. Nat Med 7: 552-556.
5. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087-1093.
6. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
7. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, et al. (2007) Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39: 865-869.
8. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, et al. (2008) Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A 105: 4340-4345.
9. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, et al. (2008) Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 40: 703-706.
10. Zheng W, Long J, Gao YT, Li C, Zheng Y, et al. (2009) Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41: 324-328.
11. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, et al. (2009) A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41: 579-584. ng.353 [pii];10.1038/ng.353 [doi].
12. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, et al. (2009) Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585-590. ng.354 [pii];10.1038/ng.354 [doi].
13. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, et al. (2010) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42: 504-507. ng.586 [pii];10.1038/ng.586 [doi].
14. Long J, Cai Q, Shu XO, Qu S, Li C, et al. (2010) Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium. PLoS Genet 6: e1001002.
15. Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet %19.
16. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, et al. (2011) Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 103: 425-435.
17. Cai Q, Long J, Lu W, Qu S, Wen W, et al. (2011) Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium. Hum Mol Genet 20: 4991-4999. ddr405 [pii];10.1093/hmg/ddr405 [doi].
18. Long J, Cai Q, Sung H, Shi J, Zhang B,et al. (2012) Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet 8: e1002532. 10.1371/journal.pgen.1002532 [doi];PGENETICS-D-11-01537 [pii].
19. Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, et al. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet. ng.1049 [pii];10.1038/ng.1049 [doi].
20. Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, et al. (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 43: 1210-1214. ng.985 [pii];10.1038/ng.985 [doi].
21. Lindstrom S, Vachon CM, Li J, Varghese J, Thompson D, et al. (2011) Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 43: 185-187. ng.760 [pii];10.1038/ng.760 [doi].
22. Michcailidou K, Hall K, Gonzalez-Niera A, Ghoussaini M, Dennis J, et al. (2012) Large-scale genotyping identifies 42 new breast cancer susceptibility loci. Nat Genet, in press.
23. McCarthy MI, Hirschhorn JN, (2008) Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet 17: R156-R165.
24. Signorello LB, Hargreaves MK, Steinwandel MD, Zheng W, Cai Q, et al. (2005) Southern community cohort study: establishing a cohort to investigate health disparities. J Natl Med Assoc 97: 972-979.
25. Zheng W, Cai Q, Signorello LB, Long J, Hargreaves MK, et al. (2009) Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev 18: 2761-2764.
26. Tang H, Peng J, Wang P, Risch NJ (2005) Estimation of individual admixture: analytical and study design considerations. Genet Epidemiol 28: 289-301. 10.1002/gepi.20064 [doi].
27. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
28. Long J, Cai QY, Sung H (2012) Genome-wide association study in East Asians identifies novel susceptibility loci for breast cancer. PLoS Genet in press.
29. Parra EJ, Kittles RA, Argyropoulos G, Pfaff CL, Hiester K, et al. (2001) AID-AJPA1002>3.0.CO;2-2 [pii];10.1002/1096-8644(200101)114:1<18::AID-AJPA1002>3.0.CO;2-2 [doi].
30. Zakharia F, Basu A, Absher D, Assimes TL, Go AS, et al. (2009) Characterizing the admixed African ancestry of African Americans. Genome Biol 10: R141. gb-2009-10-12-r141 [pii];10.1186/gb-2009-10-12-r141 [doi].
31. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, et al. (2007) A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 39: 352-358. ng1981 [pii];10.1038/ng1981 [doi].
32. Barnholtz-Sloan JS, Shetty PB, Guan X, Nyante SJ, Luo J,et al. (2010) FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. Carcinogenesis 31: 1417-1423. bgq128 [pii];10.1093/carcin/bgq128 [doi].
33. Chen F, Chen GK, Millikan RC, John EM, Ambrosone CB, et al. (2011) Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans. Hum Mol Genet 20: 4491-4503. ddr367 [pii];10.1093/hmg/ddr367 [doi].
34. Huo D, Zheng Y, Ogundiran TO, Adebamowo C, Nathanson KL, et al. (2012) Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. Carcinogenesis 33: 835-840. bgs093 [pii];10.1093/carcin/bgs093 [doi].
35. Hutter CM, Young AM, Ochs-Balcom HM, Carty CL, Wang T, et al. (2011) Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe Study. Cancer Epidemiol Biomarkers Prev 20: 1950-1959. 1055-9965. EPI-11-0524 [pii];10.1158/1055-9965.EPI-11-0524 [doi].
36. Rebbeck TR, Demichele A, Tran TV, Panossian S, Bunin GR, et al. (2009) Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Carcinogenesis 30: 269-274. bgn247 [pii];10.1093/carcin/bgn247 [doi].
37. Ruiz-Narvaez EA, Rosenberg L, Cozier YC, Cupples LA, Adams-Campbell LL, et al.(2010) Polymorphisms in the TOX3/LOC643714 locus and risk of breast cancer in African-American women. Cancer Epidemiol Biomarkers Prev 19: 1320-1327. 1055-9965.EPI-09-1250 [pii];10.1158/1055-9965.EPI-09-1250 [doi].
38. Udler MS, Meyer KB, Pooley KA, Karlins E, Struewing JP, et al. (2009) FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum Mol Genet 18: 1692-1703. ddp078 [pii];10.1093/hmg/ddp078 [doi].
39. Ruiz-Narvaez EA, Rosenberg L, Rotimi CN, Cupples LA, Boggs DA, et al. (2010) Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women's Health Study. Breast Cancer Res Treat 123: 525-530. 10.1007/s10549-010-0775-5 [doi].
40. Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, et al. (2009) The genetic structure and history of Africans and African Americans. Science 324: 1035-1044.