Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases

Cancer Epidemiology Biomarkers and Prevention

Volumn 21, Issue 2, 2012, Pages 262-272

  Dudbridge, Frank ^a   Fletcher, Olivia ^b   Walker, Kate ^a   Johnson, Nichola ^b   Orr, Nick ^b   Dos Santos Silva, Isabel ^a   Peto, Julian ^a  

^a LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CAUSAL ATTRIBUTION; CHROMOSOME ANALYSIS; FAMILIAL CANCER; FAMILY HISTORY; GENE FREQUENCY; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BAYES THEOREM; BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREAT BRITAIN; HUMANS; LIKELIHOOD FUNCTIONS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TUMOR MARKERS, BIOLOGICAL;

EID: 84857066760     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-11-0719     Document Type: Article

References (23)

1. Antoniou AC, Easton DF. Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 2003; 25:190-202. (Pubitemid 37296594)
2. Begg CB, Berwick M. A note on the estimation of relative risks of rare genetic susceptibility markers. Cancer Epidemiol Biomarkers Prev 1997;6:99-103. (Pubitemid 27069202)
3. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-5. (Pubitemid 44141653)
4. Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J. Interaction between CHEK21100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 2005;366:1554-7. (Pubitemid 41540113)
5. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K, et al. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 2011;103: 425-35.
6. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 2010;42:504-7.
7. Hemminki K, Bermejo JL. Constraints for genetic association studies imposed by attributable fraction and familial risk. Carcinogenesis 2007;28:648-56. (Pubitemid 46523360)
8. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
9. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001;69:124-37. (Pubitemid 32614025)
10. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. PLoS Biol 2010;8:e1000294.
11. Anderson CA, Soranzo N, Zeggini E, Barrett JC. Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol 2011;9:e1000580.
12. Wray NR, Purcell SM, Visscher PM. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol 2011;9: e1000579.
13. Spencer C, Hechter E, Vukcevic D, Donnelly P. Quantifying the underestimation of relative risks from genome-wide association studies. PLoS Genet 2011;7:e1001337.
14. Milne RL, Benitez J, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, et al. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 2009;101: 1012-8.
15. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 2009;41: 585-90.
16. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447: 1087-93.
17. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, et al. Commonvariants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007;39:865-9. (Pubitemid 47014497)
18. Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009;41:324-8.
19. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, 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;41:579-84.
20. Vukcevic D, Hechter E, Spencer C, Donnelly P. Disease model distortion in association studies. Genet Epidemiol 2011; doi: 10.1002/ gepi.20576. [Epub ahead of print].
21. International HapMap Consortium. A haplotype map of the human genome. Nature 2005;437:1299-320.
22. Iles MM. What can genome-wide association studies tell us about the genetics of common disease? PLoS Genet 2008;4:e33.
23. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002;31:33-6.