Volumetric mammographic density: Heritability and association with breast cancer susceptibility loci

Journal of the National Cancer Institute

Volumn 106, Issue 12, 2014, Pages

  Brand, Judith S ^a   Humphreys, Keith ^a   Thompson, Deborah J ^b   Li, Jingmei ^c   Eriksson, Mikael ^a   Hall, Per ^a   Czene, Kamila ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b Division of Cancer Epidemiology and Genetics   (United Kingdom)

^c GENOME INSTITUTE OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; BREAST DENSITY; CANCER SUSCEPTIBILITY; ESR1 GENE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MLK1 GENE; NTN4 GENE; ONCOGENE; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; TAB2 GENE; BREAST TUMOR; CONGENITAL MALFORMATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MAMMARY GLAND; MAMMOGRAPHY; MIDDLE AGED; ORGAN SIZE; PATHOLOGY; STATISTICAL MODEL;

ADULT; AGED; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINEAR MODELS; MAMMARY GLANDS, HUMAN; MAMMOGRAPHY; MIDDLE AGED; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84922393079     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/dju334     Document Type: Article

References (50)

1. 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(6):1159-1169.
2. Assi V, Warwick J, Cuzick J, Duffy SW. Clinical and epidemiological issues in mammographic density. Nat Rev Clin Oncol. 2011;9(1):33-40.
3. Vachon CM, Kuni CC, Anderson K, Anderson VE, Sellers TA. Association of mammographically defined percent breast density with epidemiologic risk factors for breast cancer (United States). Cancer Causes Control. 2000;11(7):653-662.
4. Boyd NF, Dite GS, Stone J, et al. Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med. 2002;347(12):886-894.
5. Stone J, Dite GS, Gunasekara A, et al. The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev. 2006;15(4):612-617.
6. Varghese JS, Thompson DJ, Michailidou K, et al. Mammographic breast density and breast cancer: evidence of a shared genetic basis. Cancer Res. 2012;72(6):1478-1484.
7. Lindstrom S, Vachon CM, Li J, et al. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet. 2011;43(3):185-187.
8. Vachon CM, Scott CG, Fasching PA, 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(7):1156-1166.
9. Odefrey F, Stone J, Gurrin LC, et al. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. Cancer Res. 2010;70(4):1449-1458.
10. Stevens KN, Lindstrom S, Scott CG, et al. Identification of a novel percent mammographic density locus at 12q24. Hum Mol Genet. 2012;21(14):3299-3305.
11. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4):353-361, 361e1-2.
12. Nguyen TL, Schmidt DF, Makalic E, 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(12):2395-2403.
13. Sung J, Song YM, Stone J, Lee K, Jeong JI, Kim SS. Genetic influences on mammographic density in Korean twin and family: the Healthy Twin study. Breast Cancer Res Treat. 2010;124(2):467-474.
14. Kataoka M, Antoniou A, Warren R, et al. Genetic models for the familial aggregation of mammographic breast density. Cancer Epidemiol Biomarkers Prev. 2009;18(4):1277-1284.
15. Ursin G, Lillie EO, Lee E, et al. The relative importance of genetics and environment on mammographic density. Cancer Epidemiol Biomarkers Prev. 2009;18(1):102-112.
16. Pankow JS, Vachon CM, Kuni CC, et al. Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst. 1997;89(8):549-556.
17. Highnam R, Brady M, Yaffe M, Karssemeijer N, Harvey J. Robust breast composition measurement - Volpara™. Lectures Notes in Computer Science. 2010;6136:342-349.
18. Ciatto S, Bernardi D, Calabrese M, et al. A first evaluation of breast radiological density assessment by QUANTRA software as compared to visual classification. Breast. 2012;21(4):503-506.
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(6):1148-1154.
20. Boyd N, Martin L, Gunasekara A, et al. Mammographic density and breast cancer risk: evaluation of a novel method of measuring breast tissue volumes. Cancer Epidemiol Biomarkers Prev. 2009;18(6):1754-1762.
21. Lokate M, Kallenberg MG, Karssemeijer N, Van den Bosch MA, Peeters PH, Van Gils CH. Volumetric breast density from full-field digital mammograms and its association with breast cancer risk factors: a comparison with a threshold method. Cancer Epidemiol Biomarkers Prev. 2010;19(12):3096-3105.
22. Aitken Z, McCormack VA, Highnam RP, et al. Screen-film mammographic density and breast cancer risk: a comparison of the volumetric standard mammogram form and the interactive threshold measurement methods. Cancer Epidemiol Biomarkers Prev. 2010;19(2):418-428.
23. Jeffreys M, Harvey F, Highnam R. Comparing a new volumetric breast density method (VolparaTM) to Cumulus. Lectures Notes in Computer Science. 2010;6136:408-413.
24. The KARMA study. Available at: http://karmastudy.org/. Accessed January 2014.
25. Brand JS, Czene K, Shepherd JA, et al. Automated measurement of volumetric mammographic density: a tool for widespread breast cancer risk assessment. Cancer Epidemiol Biomarkers Prev. 2014;23(9):1764-1772.
26. Magnusson C, Baron J, Persson I, et al. Body size in different periods of life and breast cancer risk in post-menopausal women. Int J Cancer. 1998;76(1):29-34.
27. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575.
28. Garcia-Closas M, Couch FJ, Lindstrom S, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45(4):392-398, 398e1-2.
29. Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed January 2014.
30. Bojesen SE, Pooley KA, Johnatty SE, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4):371-384, 384e1-2.
31. French JD, Ghoussaini M, Edwards SL, et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet. 2013;92(4):489-503.
32. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 2009;5(6):e1000529.
33. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62(5):1198-1211.
34. Broeckel U, Maresso K, Martin LJ. Linkage analysis for complex diseases using variance component analysis: SOLAR. Methods Mol Med. 2006;128:91-100.
35. Varghese JS, Smith PL, Folkerd E, et al. The heritability of mammographic breast density and circulating sex-hormone levels: two independent breast cancer risk factors. Cancer Epidemiol Biomarkers Prev. 2012;21(12):2167-2175.
36. Nickels S, Truong T, Hein R, et al. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet. 2013;9(3):e1003284.
37. Tamimi RM, Cox D, Kraft P, Colditz GA, Hankinson SE, Hunter DJ. Breast cancer susceptibility loci and mammographic density. Breast Cancer Res. 2008;10(4):R66.
38. Woolcott CG, Maskarinec G, Haiman CA, et al. Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. Breast Cancer Res. 2009;11(1):R10.
39. Long J, Cai Q, Sung H, et al. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 2012;8(2):e1002532.
40. Benson JR. Role of transforming growth factor beta in breast carcinogenesis. Lancet Oncol. 2004;5(4):229-239.
41. Barcellos-Hoff MH, Akhurst RJ. Transforming growth factor-beta in breast cancer: too much, too late. Breast Cancer Res. 2009;11(1):202.
42. Lee E, Van Den Berg D, Hsu C, et al. Genetic variation in transforming growth factor beta 1 and mammographic density in Singapore Chinese women. Cancer Res. 2013;73(6):1876-1882.
43. Zhu P, Baek SH, Bourk EM, et al. Macrophage/cancer cell interactions mediate hormone resistance by a nuclear receptor derepression pathway. Cell. 2006;124(3):615-629.
44. Cutrupi S, Reineri S, Panetto A, et al. Targeting of the adaptor protein Tab2 as a novel approach to revert tamoxifen resistance in breast cancer cells. Oncogene. 2012;31(40):4353-4361.
45. Fletcher O, Johnson N, Orr N, et al. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst. 2011;103(5):425-435.
46. Li J, Foo JN, Schoof N, et al. Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size. J Med Genet. 2013;50(10):666-673.
47. Pettersson A, Graff RE, Ursin G, et al. Mammographic Density Phenotypes and Risk of Breast Cancer: A Meta-analysis. J Natl Cancer Inst. 2014;106(5):dju078 doi:10.1093/jnci/dju078.
48. 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(5):R100.
49. Monsees GM, Tamimi RM, Kraft P. Genome-wide association scans for secondary traits using case-control samples. Genet Epidemiol. 2009;33(8):717-728.
50. Richardson DB, Rzehak P, Klenk J, Weiland SK. Analyses of case-control data for additional outcomes. Epidemiology. 2007;18(4):441-445.