Novel associations between common breast cancer susceptibility variants and risk-predicting mammographic density measures

Cancer Research

Volumn 75, Issue 12, 2015, Pages 2457-2467

  Stone, Jennifer ^a   Thompson, Deborah J ^b   Dos Santos Silva, Isabel ^c   Scott, Christopher ^d   Tamimi, Rulla M ^e,f   Lindstrom, Sara ^f   Kraft, Peter ^f   Hazra, Aditi ^f   Li, Jingmei ^g,h   Eriksson, Louise ^g   Czene, Kamila ^g   Hall, Per ^g   Jensen, Matt ^d   Cunningham, Julie ^d   Olson, Janet E ^d   Purrington, Kristen ⁱ   Couch, Fergus J ^d   Brown, Judith ^b   Leyland, Jean ^b   Warren, Ruth M L ^j   Luben, Robert N ^b   Khaw, Kay Tee ^b   Smith, Paula ^b   Wareham, Nicholas J ^b   Jud, Sebastian M ^k   Heusinger, Katharina ^k   Beckmann, Matthias W ^k   Douglas, Julie A ^l   Shah, Kaanan P ^l   Chan, Heang Ping ^l   Helvie, Mark A ^l   Marchand, Loic Le ^m   Kolonel, Laurence N ^m   Woolcott, Christy ⁿ   Maskarinec, Gertraud ^m   Haiman, Christopher ^o   Giles, Graham G ^p,q   Baglietto, Laura ^p,q,r,s   Krishnan, Kavitha ^q   Southey, Melissa C ^t   Apicella, Carmel ^q   Andrulis, Irene L ^u,v   Knight, Julia A ^u,w   Ursin, Giske ^x,y   Alnaes, Grethe I Grenaker ^z   Kristensen, Vessela N ^z   Borresen Dale, Anne Lise ^z   Gram, Inger Torhild ^aa   Bolla, Manjeet K ^b   Wang, Qin ^aa   Michailidou, Kyriaki ^b   Dennis, Joe ^b   Simard, Jacques ^ab   Pharoah, Paul ^b   Dunning, Alison M ^b   Easton, Douglas F ^b   Fasching, Peter A ^k,ac   Pankratz, V Shane ^d   Hopper, John L ^q   Vachon, Celine M ^d   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

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

^d MAYO CLINIC   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^g KAROLINSKA INSTITUTE   (Sweden)

^h GENOME INSTITUTE OF SINGAPORE   (Singapore)

ⁱ WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^k UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^l UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^m UNIVERSITY OF HAWAII   (United States)

ⁿ IWK HEALTH CENTRE   (Canada)

^o UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^p CANCER EPIDEMIOLOGY CENTRE   (Australia)

^q UNIVERSITY OF MELBOURNE   (Australia)

^r INSTITUT GUSTAVE ROUSSY   (France)

^s UNIVERSITÉ PARIS SACLAY   (France)

^t UNIVERSITY OF MELBOURNE   (Australia)

^u MOUNT SINAI HOSPITAL   (Canada)

^v UNIVERSITY OF TORONTO   (Canada)

^w UNIVERSITY OF TORONTO   (Canada)

^x UNIVERSITY OF OSLO   (Norway)

^y UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^z OSLO UNIVERSITY HOSPITAL   (Norway)

^aa UNIVERSITY OF TROMSØ   (Norway)

^ab Université Laval   (Canada)

^ac UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2P24.1 GENE; ADULT; ARTICLE; BREAST CANCER; BREAST DENSITY; CANCER RISK; CANCER SUSCEPTIBILITY; EBF1 GENE; ESR1 GENE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LSP1 GENE; MAJOR CLINICAL STUDY; MAMMOGRAPHY; MIR1972-2 FTO GENE; MKL1 GENE; NTN4 GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ZNF365 GENE; ABNORMALITIES; AGED; BREAST NEOPLASMS; DISEASE PREDISPOSITION; GENETIC PREDISPOSITION; GENETICS; MAMMARY GLAND; MIDDLE AGED; PATHOLOGY; RISK FACTOR;

AGED; BREAST NEOPLASMS; DISEASE SUSCEPTIBILITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MAMMARY GLANDS, HUMAN; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84937059932     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-14-2012     Document Type: Article

References (50)

1. McCormack VA, Dos Santos Silva I. Breast density and parenchymal patterns asmarkers of breast cancer risk: ameta-analysis. Cancer Epidemiol Biomarkers Prev 2006;15:1159-69.
2. Boyd NF, Dite GS, Stone J, Gunasekara A, English DR, McCredie MR, et al. Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med 2002;347:886-94.
3. Stone J, Dite GS, Gunasekara A, English DR, McCredie MR, Giles GG, et al. The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev 2006;15:612-7.
4. Olson JE, Sellers TA, Scott CG, Schueler BA, Brandt KR, Serie DJ, et al. The influence of mammogram acquisition on the mammographic density and breast cancer association in the MayoMammography Health Study Cohort. Breast Cancer Res 2012;14:R147.
5. Martin LJ, Melnichouk O, Guo H, Chiarelli AM, Hislop TG, Yaffe MJ, et al. Family history, mammographic density, and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2010;19:456-63.
6. Baglietto L, Krishnan KJS, Apicella C, English DR, Hopper J, et al. Associations of mammographic dens and non-dense area and body mass index with risk of breast cancer. Am J Epidemiol 2014;179:475-83.
7. Odefrey F, Stone J, Gurrin LC, Byrnes GB, Apicella C, Dite GS, et al. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. Cancer Res 2010;70:1449-58.
8. Vachon CM, Sellers TA, Carlson EE, Cunningham JM, Hilker CA, Smalley RL, et al. Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer. Cancer Res 2007;67:8412-8.
9. Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, et al. Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev 2012;21:1156-66.
10. 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.
11. Lindstrom S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C, et al. Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nat Commun 2014;5:5303.
12. Varghese JS, Thompson DJ, Michailidou K, Lindstrom S, Turnbull C, Brown J, et al. Mammographic breast density and breast cancer: evidence of a shared genetic basis. Cancer Res 2012;72:1478-84.
13. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013;45:353-61.
14. Brand JS, Humphreys K, Thompson DJ, Li J, Eriksson M, Hall P, et al. Volumetric mammographic density: heritability and association with breast cancer susceptibility Loci. J Natl Cancer Inst 2014;106.
15. Douglas JA, Roy-Gagnon MH, Zhou C, Mitchell BD, Shuldiner AR, Chan HP, et al. Mammographic breast density-evidence for genetic correlations with established breast cancer risk factors. Cancer Epidemiol Biomarkers Prev 2008;17:3509-16.
16. Byng JW, Boyd NF, Fishell E, Jong RA, Yaffe MJ. The quantitative analysis of mammographic densities. Phys Med Biol 1994;39:1629-38.
17. Gram IT, Bremnes Y, Ursin G, Maskarinec G, Bjurstam N, Lund E. Percentage density, Wolfe's and Tabar's mammographic patterns: agreement and associationwith risk factors for breast cancer. BreastCancer Res 2005;7:R854-61.
18. Zhou C, Chan HP, Petrick N, Helvie MA, Goodsitt MM, Sahiner B, et al. Computerized image analysis: estimation of breast density on mammograms. Med Phys 2001;28:1056-69.
19. McCormack VA, Highnam R, Perry N, Dos Santos Silva I. Comparison of a new and existing method of mammographic density measurement: intramethod reliability and associations with known risk factors. Cancer Epidemiol Biomarkers Prev 2007;16:1148-54.
20. Lin DY, Fleming TR, De Gruttola V. Estimating the proportion of treatment effect explained by a surrogate marker. Stat Med 1997;16:1515-27.
21. Fisher R. Statistical methods for research workers. 14th ed. New York: Hafner/MacMillan; 1970.
22. Tibshirani R. Regression shrinkage and selection via the Lasso. J R Stat Soc B Met 1996;58:267-88.
23. Eng A, Gallant Z, Shepherd J, McCormack V, Li J, Dowsett M, et al. Digital mammographic density and breast cancer risk: a case inverted question markcontrol study of six alternative density assessment methods. Breast Cancer Res 2014;16:439.
24. Pinto Pereira SM, McCormack VA, Hipwell JH, Record C, Wilkinson LS, Moss SM, et al. Localized fibroglandular tissue as a predictor of future tumor location within the breast. Cancer Epidemiol Biomarkers Prev 2011;20:1718-25.
25. Ghosh K, Hartmann LC, Reynolds C, Visscher DW, Brandt KR, Vierkant RA, et al. Association between mammographic density and age-related lobular involution of the breast. J Clin Oncol 2010;28:2207-12.
26. Ginsburg OM, Martin LJ, Boyd NF. Mammographic density, lobular involution, and risk of breast cancer. Br J Cancer 2008;99:1369-74.
27. De Filippis RA, Chang H, Dumont N, Rabban JT, Chen YY, Fontenay GV, et al. CD36 repression activates a multicellular stromal program shared by high mammographic density and tumor tissues. Cancer Discov 2012;2:826-39.
28. Nguyen TL, Schmidt DF, Makalic E, Dite GS, Stone J, Apicella C, et al. Explaining variance in the cumulus mammographic measures that predict breast cancer risk: a twins and sisters study. Cancer Epidemiol Biomarkers Prev 2013;22:2395-403.
29. Lokate M, Peeters PH, Peelen LM, Haars G, Veldhuis WB, Van Gils CH. Mammographic density and breast cancer risk: the role of the fat surrounding the fibroglandular tissue. Breast Cancer Res 2011;13:R103.
30. Pettersson A, Hankinson SE, Willett WC, Lagiou P, Trichopoulos D, Tamimi RM. Nondense mammographic area and risk of breast cancer. Breast Cancer Res 2011;13:R100.
31. Stone J, Ding J, Warren RM, Duffy SW, Hopper JL. Using mammographic density to predict breast cancer risk: dense area or percentage dense area. Breast Cancer Res 2010;12:R97.
32. Pettersson A, Graff RE, Ursin G, Santos Silva ID, McCormack V, Baglietto L, et al. Mammographic density phenotypes and risk of breast cancer: a metaanalysis. J Natl Cancer Inst 2014;106.
33. Li J, Foo JN, Schoof N, Varghese JS, Fernandez-Navarro P, Gierach GL, et al. Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size. J Med Genet 2013;50:666-73.
34. Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, et al. Genetic variants associated with breast size also influence breast cancer risk. BMC Med Genet 2012;13:53.
35. Stone J, Dite GS, Giles GG, Cawson J, English DR, Hopper JL. Inference about causation from examination of familial confounding: application to longitudinal twin data on mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev 2012;21:1149-55.
36. Vachon CM, Ghosh K, Brandt KR. Mammographic density: potential as a risk factor and surrogate marker in the clinical setting. Curr Breast Cancer Rep 2013;5:183-93.
37. Lindstrom S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, et al. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 2011;43:185-7.
38. John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, et al. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res 2004;6:R375-89.
39. Hopper JL, Chenevix-Trench G, Jolley DJ, Dite GS, Jenkins MA, Venter DJ, et al. Design and analysis issues in a population-based, case-control-family study of the genetic epidemiology of breast cancer and the Co-operative Family Registry for Breast Cancer Studies (CFRBCS). J Natl Cancer Inst Monogr 1999:95-100.
40. Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR, et al. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 2003;95:448-57.
41. Heusinger K, Loehberg CR, Haeberle L, Jud SM, Klingsiek P, Hein A, et al. Mammographic density as a risk factor for breast cancer in a German casecontrol study. Eur J Cancer Prev 2011;20:1-8.
42. Day N, Oakes S, Luben R, Khaw KT, Bingham S, Welch A, et al. EPICNorfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. Br J Cancer 1999;80(Suppl 1):95-103.
43. Kelemen LE, Wang X, Fredericksen ZS, Pankratz VS, Pharoah PD, Ahmed S, et al. Genetic variation in the chromosome 17q23 amplicon and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2009;18:1864-8.
44. Giles GG, English DR. The Melbourne collaborative cohort study. IARC Sci Publ 2002;156:69-70.
45. Woolcott CG, Maskarinec G, Haiman CA, Verheus M, Pagano IS, Le Marchand L, et al. Association between breast cancer susceptibility loci and mammographic density: the multiethnic cohort. Breast Cancer Res 2009;11:R10.
46. Maskarinec G, Pagano I, Lurie G, Wilkens LR, Kolonel LN. Mammographic density and breast cancer risk: the multiethnic cohort study. Am J Epidemiol 2005;162:743-52.
47. Tamimi RM, Colditz GA, Hankinson SE. Circulating carotenoids, mammographic density, and subsequent risk of breast cancer. Cancer Res 2009;69:9323-9.
48. Tamimi RM, Cox DG, Kraft P, Pollak MN, Haiman CA, Cheng I, et al. Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density: a cross-sectional study. Breast Cancer Res 2007;9:R18.
49. Wedren S, Lovmar L, Humphreys K, Magnusson C, Melhus H, Syvanen AC, et al. Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study. Breast Cancer Res 2004;6:R437-49.
50. Kataoka M, Antoniou A, Warren R, Leyland J, Brown J, Audley T, et al. Genetic models for the familial aggregation of mammographic breast density. Cancer Epidemiol Biomarkers Prev 2009;18:1277-84.