Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

Nature Communications

Volumn 5, Issue , 2014, Pages

  Lindström, Sara ^a   Thompson, Deborah J ^b   Paterson, Andrew D ^c   Li, Jingmei ^d   Gierach, Gretchen L ^e   Scott, Christopher ^f   Stone, Jennifer ^g   Douglas, Julie A ^h   Dos Santos Silva, Isabel ⁱ   Fernandez Navarro, Pablo ^j,k   Verghase, Jajini ^b,l   Smith, Paula ^b   Brown, Judith ^b   Luben, Robert ^b   Wareham, Nicholas J ^b   Loos, Ruth J F ^b,m   Heit, John A ^f   Shane Pankratz, V ^f   Norman, Aaron ^f   Goode, Ellen L ^f   Cunningham, Julie M ^f   DeAndrade, Mariza ^f   Vierkant, Robert A ^f   Czene, Kamila ^d   Fasching, Peter A ^n,o   Baglietto, Laura ^p,q   Southey, Melissa C ^r   Giles, Graham G ^p,q   Shah, Kaanan P ^h   Chan, Heang Ping ^h   Helvie, Mark A ^h   Beck, Andrew H ^s   Knoblauch, Nicholas W ^s   Hazra, Aditi ^a,t   Hunter, David J ^a,t   Kraft, Peter ^a   Pollan, Marina ^j,k   Figueroa, Jonine D ^e   Couch, Fergus J ^f   Hopper, John L ^q   Hall, Per ^d   Easton, Douglas F ^b   Boyd, Norman F ^u   Vachon, Celine M ^f   Tamimi, Rulla M ^a,t   more..

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d KAROLINSKA INSTITUTE   (Sweden)

^e NATIONAL CANCER INSTITUTE   (United States)

^f MAYO CLINIC   (United States)

^g UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^j CARLOS III INSTITUTE OF HEALTH   (Spain)

^k CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^l ROYAL FREE HOSPITAL   (United Kingdom)

^m MOUNT SINAI SCHOOL OF MEDICINE   (United States)

ⁿ UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p CANCER EPIDEMIOLOGY CENTRE   (Australia)

^q UNIVERSITY OF MELBOURNE   (Australia)

^r UNIVERSITY OF MELBOURNE   (Australia)

^s HARVARD MEDICAL SCHOOL   (United States)

^t BRIGHAM AND WOMEN S HOSPITAL   (United States)

^u PRINCESS MARGARET HOSPITAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

8P11.23 PROTEIN; ANKRD54 PROTEIN; AREG PROTEIN; BAIAP2L2 PROTEIN; EARLY GROWTH RESPONSE FACTOR 1; EPIDERMAL GROWTH FACTOR; ESR1 PROTEIN; GR PROTEIN; HEPATOCYTE NUCLEAR FACTOR 3ALPHA; IGF1 PROTEIN; LSP1 PROTEIN; MKL1 PROTEIN; PRDM6 PROTEIN; PROTEIN; RAD21 PROTEIN; SGSM3 PROTEIN; SMC3 PROTEIN; TMEM184B PROTEIN; TNNT3 PROTEIN; TRANSCRIPTION FACTOR GATA 3; TRANSCRIPTION FACTOR MAFF; TRANSCRIPTION FACTOR YY1; UNCLASSIFIED DRUG; ZNF365 PROTEIN;

CANCER; GENETIC ANALYSIS; GENOME; HEALTH RISK; META-ANALYSIS; PHENOTYPE; WOMENS HEALTH;

ADIPOSE TISSUE; ARTICLE; BREAST CANCER; BREAST DENSITY; BREAST EPITHELIUM CELL; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; ENHANCER REGION; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; PHENOTYPE; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES; BREAST TUMOR; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MAMMARY GLAND; RADIOGRAPHY;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MAMMARY GLANDS, HUMAN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84923349434     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms6303     Document Type: Article

References (44)

1. Vachon, C. M. et al. Mammographic density, breast cancer risk and risk prediction. Breast Cancer Res. 9, 217 (2007).
2. Pettersson, A. et al. Nondense mammographic area and risk of breast cancer. Breast Cancer Res. 13, R100 (2011).
3. Pettersson, A. et al. Mammographic density phenotypes and risk of breast cancer: a meta-analysis. J. Natl Cancer Inst. 106, 5 (2014).
4. Boyd, N. F. et al. Heritability of mammographic density, a risk factor for breast cancer. New Engl. J. Med. 347, 886-894 (2002).
5. Stone, J. et al. The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol. Biomark. Prev. 15, 612-617 (2006).
6. Lindstrom, S. et al. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat. Genet. 43, 185-187 (2011).
7. Stevens, K. N. et al. Identification of a novel percent mammographic density locus at 12q24. Hum. Mol. Genet. 21, 3299-3305 (2012).
8. Vachon, C. M. et al. Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol. Biomark. Prev. 21, 1156-1166 (2012).
9. Byng, J. W. et al. Symmetry of projection in the quantitative analysis of mammographic images. Eur. J. Cancer prev. 5, 319-327 (1996).
10. Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
11. Eriksson, N. et al. Genetic variants associated with breast size also influence breast cancer risk. BMC Med. Genet. 13, 53 (2012).
12. Long, J. et al. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 8, e1002532 (2012).
13. Siddiq, A. et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum. Mol. Genet. 21, 5373-5384 (2012).
14. Turnbull, C. et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat. Genet. 42, 504-507 (2010).
15. Zheng, W. et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat. Genet. 41, 324-328 (2009).
16. Cai, Q. et al. 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 (2011).
17. Hunter, D. J. et al. A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nat. Rev. Cancer 5, 977-985 (2005).
18. Key, T. J., Appleby, P. N., Reeves, G. K. & Roddam, A. W. Insulin-like growth factor 1 (IGF1), IGF binding protein 3 (IGFBP3), and breast cancer risk: pooled individual data analysis of 17 prospective studies. Lancet Oncol. 11, 530-542 (2010).
19. Michailidou, K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 361e1-362ee (2013).
20. Nan, H. et al. Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. Hum. Mol. Genet. 20, 2673-2679 (2011).
21. Zhang, M. et al. Association between Cutaneous Nevi and Breast Cancer in the Nurses' Health Study: A Prospective Cohort Study. PLoS Med. 11, e1001659 (2014).
22. Kvaskoff, M. et al. Association between Melanocytic Nevi and Risk of Breast Diseases: The French E3N Prospective Cohort. PLoS Med. 11, e1001660 (2014).
23. Michailidou, K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353-361 (2013).
24. Consortium, E. P. et al. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
25. Stacey, S. N. et al. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet. 6, e1001029 (2010).
26. Yang, T. P. et al. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 26, 2474-2476 (2010).
27. Cancer Genome Atlas, N. Comprehensive molecular portraits of human breast tumours. Nature 490, 61-70 (2012).
28. Easton, D. F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-1093 (2007).
29. Kerdivel, G. et al. Activation of the MKL1/actin signaling pathway induces hormonal escape in estrogen-responsive breast cancer cell lines. Mol. Cell Endocrinol. 390, 34-44 (2014).
30. Purrington, K. S. et al. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 35, 1012-1019 (2014).
31. Baer, H. J., Tworoger, S. S., Hankinson, S. E. & Willett, W. C. Body fatness at young ages and risk of breast cancer throughout life. Am. J. Epidemiol. 171, 1183-1194 (2010).
32. van den Brandt, P. A. et al. Pooled analysis of prospective cohort studies on height, weight, and breast cancer risk. Am. J. Epidemiol. 152, 514-527 (2000).
33. Genomes Project, CAbecasis, G. R. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012).
34. Varghese, J. S. et al. Mammographic breast density and breast cancer: evidence of a shared genetic basis. Cancer Res. 72, 1478-1484 (2012).
35. Almasy, L. & Blangero, J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am. J. Hum. Genet. 62, 1198-1211 (1998).
36. Amos, C. I. Robust variance-components approach for assessing genetic linkage in pedigrees. Am. J. Hum. Genet. 54, 535-543 (1994).
37. Aulchenko, Y. S., Struchalin, M. V. & van Duijn, C. M. ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 11, 134 (2010).
38. Ward, L. D. & Kellis, M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40, D930-D934 (2012).
39. Boyle, A. P. et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790-1797 (2012).
40. Nica, A. C. et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet. 7, e1002003 (2011).
41. Huang da, W., Sherman, B. T. & Lempicki, R. A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
42. Huang da, W., Sherman, B. T. & Lempicki, R. A. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 37, 1-13 (2009).
43. Ghoussaini, M. et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet. 44, 312-318 (2012).
44. Garcia-Closas, M. et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat. Genet. 45, 398e1-398e2 (2013).