A genome-wide linkage study of mammographic density, a risk factor for breast cancer

Breast Cancer Research

Volumn 13, Issue 6, 2011, Pages

  Greenwood, Celia M T ^a   Paterson, Andrew D ^b,c   Linton, Linda ^d   Andrulis, Irene L ^e,f,g   Apicella, Carmel ^h   Dimitromanolakis, Apostolos ^b   Kriukov, Valentina ^d   Martin, Lisa J ^d,g   Salleh, Ayesha ^d   Samiltchuk, Elena ^b   Parekh, Rashmi V ^b   Southey, Melissa C ^h   John, Esther M ^i,j   Hopper, John L ^h   Boyd, Norman F ^d,g   Rommens, Johanna M ^b,g  

^a MCGILL UNIVERSITY   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d Campbell Family Institute for Cancer Research   (Canada)

^e Ontario Cancer Care   (Canada)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BREAST CANCER; CANCER RISK; CHROMOSOME 7P; FEMALE; GENETIC LINKAGE; GENOTYPE; HORMONAL THERAPY; HUMAN; LIVE BIRTH; MAJOR CLINICAL STUDY; MAMMOGRAPHY; MENOPAUSE; PHENOTYPE; QUANTITATIVE TRAIT; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; BREAST TUMOR; FAMILY SIZE; GENETIC ASSOCIATION; GENETIC MARKER; GENETICS; MIDDLE AGED; PHOTON ABSORPTIOMETRY; RADIOGRAPHY; RISK FACTOR;

ABSORPTIOMETRY, PHOTON; ADULT; AGED; BREAST NEOPLASMS; FAMILY CHARACTERISTICS; FEMALE; GENETIC LINKAGE; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOD SCORE; MAMMOGRAPHY; MIDDLE AGED; PHENOTYPE; RISK FACTORS;

EID: 83755184423     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr3078     Document Type: Article

References (46)

1. Johns PC, Yaffe MJ. X-ray characterisation of normal and neoplastic breast tissues. Phys Med Biol 1987, 32:675-695. 10.1088/0031-9155/32/6/002, 3039542.
2. Boyd NF, Martin LJ, Bronskill MJ, Yaffe MJ, Duric N, Minkin S. Breast tissue composition and susceptibility to breast cancer. J Natl Cancer Inst 2010, 102:1224-1237. 10.1093/jnci/djq239, 2923218, 20616353.
3. McCormack VA, dos Santos Silva I. Breast density and parenchymal patterns as markers of breast cancer risk: a meta-analysis. Cancer Epidemiol Biomarkers Prev 2006, 15:1159-1169. 10.1158/1055-9965.EPI-06-0034, 16775176.
4. Byrne C, Schairer C, Wolfe J, Parekh N, Salane M, Brinton LA, Hoover R, Haile R. Mammographic features and breast cancer risk: effects with time, age, and menopause status. J Natl Cancer Inst 1995, 87:1622-1629. 10.1093/jnci/87.21.1622, 7563205.
5. Boyd NF, Guo H, Martin LJ, Sun L, Stone J, Fishell E, Jong RA, Hislop G, Chiarelli A, Minkin S, Yaffe MJ. Mammographic density and the risk and detection of breast cancer. N Engl J Med 2007, 356:227-236. 10.1056/NEJMoa062790, 17229950.
6. Boyd NF, Dite GS, Stone J, Gunasekara A, English DR, McCredie MR, Giles GG, Tritchler D, Chiarelli A, Yaffe MJ, Hopper JL. Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med 2002, 347:886-894. 10.1056/NEJMoa013390, 12239257.
7. Ursin G, Lillie EO, Lee E, Cockburn M, Schork NJ, Cozen W, Parisky YR, Hamilton AS, Astrahan MA, Mack T. The relative importance of genetics and environment on mammographic density. Cancer Epidemiol Biomarkers Prev 2009, 18:102-112. 10.1158/1055-9965.EPI-07-2857, 19124487.
8. Stone J, Dite GS, Gunasekara A, English DR, McCredie MR, Giles GG, Cawson JN, Hegele RA, Chiarelli AM, Yaffe MJ, Boyd NF, Hopper JL. The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev 2006, 15:612-617. 10.1158/1055-9965.EPI-05-0127, 16614099.
9. John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O'Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara D, . Breast Cancer Family Registry 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:R375-389. 10.1186/bcr801, 468645, 15217505, Breast Cancer Family Registry.
10. Byng JW, Boyd NF, Fishell E, Jong RA, Yaffe MJ. Automated analysis of mammographic densities. Phys Med Biol 1996, 41:909-923. 10.1088/0031-9155/41/5/007, 8735257.
11. Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005, 21:3445-3447. 10.1093/bioinformatics/bti529, 15947021.
12. McPeek MS, Sun L. Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet 2000, 66:1076-1094. 10.1086/302800, 1288143, 10712219.
13. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575. 10.1086/519795, 1950838, 17701901.
14. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30:97-101. 10.1038/ng786, 11731797.
15. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006, 38:904-909. 10.1038/ng1847, 16862161.
16. Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Bonnen PE, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Munzy DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, et al. International HapMap 3 Consortium Integrating common and rare genetic variation in diverse human populations. Nature 2010, 467:52-58. 10.1038/nature09298, 3173859, 20811451, International HapMap 3 Consortium.
17. Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, Hyland FC, Kennedy GC, Kong X, Murray SS, Ziegle JS, Stewart WC, Buyske S. A second-generation combined linkage physical map of the human genome. Genome Res 2007, 17:1783-1786. 10.1101/gr.7156307, 2099587, 17989245.
18. Allison DB, Neale MC, Zannolli R, Schork NJ, Amos CI, Blangero J. Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure. Am J Hum Genet 1999, 65:531-544. 10.1086/302487, 1377951, 10417295.
19. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998, 62:1198-1211. 10.1086/301844, 1377101, 9545414.
20. Abecasis GR, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 2000, 66:279-292. 10.1086/302698, 1288332, 10631157.
21. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 2007, 298:2869-2876. 10.1001/jama.298.24.2869, 18159056.
22. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005, 76:887-893. 10.1086/429864, 1199378, 15789306.
23. Hastie TJ, Tibshirani RJ. Generalized additive models 1991, London: Chapman and Hall.
24. Tamimi RM, Cox D, Kraft P, Colditz GA, Hankinson SE, Hunter DJ. Breast cancer susceptibility loci and mammographic density. Breast Cancer Res 2008, 10:R66. 10.1186/bcr2127, 2575539, 18681954.
25. Vachon CM, Sellers TA, Carlson EE, Cunningham JM, Hilker CA, Smalley RL, Schaid DJ, Kelemen LE, Couch FJ, Pankratz VS. Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer. Cancer Res 2007, 67:8412-8418. 10.1158/0008-5472.CAN-07-1076, 17804758.
26. Pike MC, Krailo MD, Henderson BE, Casagrande JT, Hoel DG. 'Hormonal' risk factors, 'breast tissue age' and the age-incidence of breast cancer. Nature 1983, 303:767-770. 10.1038/303767a0, 6866078.
27. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11:241-247. 10.1038/ng1195-241, 7581446.
28. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype--phenotype associations. Eur J Hum Genet 2001, 9:301-306. 10.1038/sj.ejhg.5200625, 11313775.
29. Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva Idos S, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, et al. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 2011, 43:185-187. 10.1038/ng.760, 3076615, 21278746.
30. Boyd N, Martin L, Chavez S, Gunasekara A, Salleh A, Melnichouk O, Yaffe M, Friedenreich C, Minkin S, Bronskill M. Breast-tissue composition and other risk factors for breast cancer in young women: a cross-sectional study. Lancet Oncol 2009, 10:569-580. 10.1016/S1470-2045(09)70078-6, 19409844.
31. Lai JH, Vesprini D, Zhang W, Yaffe MJ, Pollak M, Narod SA. A polymorphic locus in the promoter region of the IGFBP3 gene is related to mammographic breast density. Cancer Epidemiol Biomarkers Prev 2004, 13:573-582.
32. Taverne CW, Verheus M, McKay JD, Kaaks R, Canzian F, Grobbee DE, Peeters PH, van Gils CH. Common genetic variation of insulin-like growth factor-binding protein 1 (IGFBP-1), IGFBP-3, and acid labile subunit in relation to serum IGF-I levels and mammographic density. Breast Cancer Res Treat 2010, 123:843-855. 10.1007/s10549-010-0778-2, 20155489.
33. Tamimi RM, Cox DG, Kraft P, Pollak MN, Haiman CA, Cheng I, Freedman ML, Hankinson SE, Hunter DJ, Colditz GA. Common genetic variation in IGF1, IBFBP-1, and IBFBP-3 in relation to mammographic density: a cross-sectional study. Breast Cancer Res 2007, 9:R18. 10.1186/bcr1655, 1851377, 17300730.
34. Verheus M, Maskarinec G, Woolcott CG, Haiman CA, Le Marchand L, Henderson BE, Cheng I, Kolonel LN. IGF1, IGFBP1, and IGFBP3 genes and mammographic density: the Multiethnic Cohort. Int J Cancer 2010, 127:1115-1123. 2925500, 20039319.
35. Stone J, Gurrin LC, Byrnes GB, Schroen CJ, Treloar SA, Padilla EJ, Dite GS, Southey MC, Hayes VM, Hopper JL. Mammographic density and candidate gene variants: a twins and sisters study. Cancer Epidemiol Biomarkers Prev 2007, 16:1479-1484. 10.1158/1055-9965.EPI-07-0107, 17627014.
36. Spence MA, Bishop DT, Boehnke M, Elston RC, Falk C, Hodge SE, Ott J, Rice J, Merikangas K, Kupfer D. Methodological issues in linkage analyses for psychiatric disorders: secular trends, assortative mating, bilineal pedigrees. Report of the MacArthur Foundation Network I Task Force on Methodological Issues. Hum Hered 1993, 43:166-172. 10.1159/000154173, 8330880.
37. Boyd NF, Hopper JL. Mammographic density of the breast. New Engl J Med 2003, 348:174-175.
38. Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB. Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 familes. Breast Cancer Res 2010, 12:R50. 10.1186/bcr2608, 2949638, 20637093.
39. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, Chenevix-Trench G, Szabo C, Southey M, Renard H, Odefrey F, Lynch H, Stoppa-Lyonnet D, Couch F, Hopper JL, Giles GG, McCredie MR, Buys S, Andrulis I, Senie R, Goldgar DE, Oldenburg R, Kroeze-Jansema K, Kraan J, Meijers-Heijboer H, Klijn JG, van Asperen C, van Leeuwen I, Vasen HF, Cornelisse CJ, et al. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 2006, 45(7):646-655. 2714969, 16575876.
40. Gonzalez-Neira A, Rosa-Rosa JM, Osorio A, Gonzalez E, Southey M, Sinilnikova O, Lynch H, Oldenburg RA, van Asperen CJ, Hoogerbrugge N, Pita G, Devilee P, Goldgar D, Benitez J. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies. BMC Genomics 2007, 8:299. 10.1186/1471-2164-8-299, 2072960, 17760956.
41. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, et al. Common variants on chromosomes 2q25 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007, 39:865-869. 10.1038/ng2064, 17529974.
42. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF, Hoover RN, Thomas G, Chanock SJ. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007, 39:870-874. 10.1038/ng2075, 17529973.
43. Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, Wen W, Levy S, Deming SL, Haines JL, Gu K, Fair AM, Cai Q, Lu W, Shu XO. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009, 41:324-328. 10.1038/ng.318, 2754845, 19219042.
44. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, Hankinson SE, Hutchinson A, Wang Z, Yu K, Chatterjee N, Garcia-Closas M, Gonzalez-Bosquet J, Prokunina-Olsson L, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver R, Prentice R, Jackson R, Kooperberg C, Chlebowski R, Lissowska J, 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. 10.1038/ng.353, 2928646, 19330030.
45. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG, Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 2010, 42:504-507. 10.1038/ng.586, 20453838.
46. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K, Zelenika D, Gut I, Heath S, Palles C, Coupland B, Broderick P, Schoemaker M, Jones M, Williamson J, Chilcott-Burns S, Tomczyk K, Simpson G, Jacobs KB, Chanock SJ, Hunter DJ, Tomlinson IP, Swerdlow A, Ashworth A, Ross G, dos Santos Silva I, Lathrop M, Houlston RS, Peto J. Novel breast cancer susceptibility locus at 9q31.2: Results of a genome-wide association study. J Natl Cancer Inst 2011, 103:425-435. 10.1093/jnci/djq563, 21263130.