Hormone-related pathways and risk of breast cancer subtypes in African American women

Breast Cancer Research and Treatment

Volumn 154, Issue 1, 2015, Pages 145-154

  Haddad, Stephen A ^a   Lunetta, Kathryn L ^b   Ruiz Narváez, Edward A ^a   Bensen, Jeannette T ^c   Hong, Chi Chen ^d   Sucheston Campbell, Lara E ^d   Yao, Song ^d   Bandera, Elisa V ^e   Rosenberg, Lynn ^a   Haiman, Christopher A ^f   Troester, Melissa A ^c   Ambrosone, Christine B ^d   Palmer, Julie R ^a  

^a BOSTON UNIVERSITY   (United States)

^b BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^c University of North Carolina at Chapel Hill   (United States)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e RUTGERS CANCER INSTITUTE OF NEW JERSEY   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

African Americans; Breast cancer; Genetics; Hormones; Pathways

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; CYTOCHROME P450 1B1; GROWTH FACTOR RECEPTOR BOUND PROTEIN 2; GROWTH HORMONE RELEASING FACTOR; MITOGEN ACTIVATED PROTEIN KINASE 3; NUCLEAR RECEPTOR DAX 1; PROGESTERONE RECEPTOR; SOMATOMEDIN B RECEPTOR; ESTROGEN RECEPTOR; SEX HORMONE; TUMOR PROTEIN;

ADULT; AFRICAN AMERICAN; AGED; AKR1C1 GENE; ARTICLE; BREAST CANCER; CALM2 GENE; CANCER RISK; CETP GENE; CYP1B1 GENE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GHRH GENE; GRB2 GENE; HORMONE SYNTHESIS; HUMAN; IGF2R GENE; MAJOR CLINICAL STUDY; MAP3K1 GENE; MAPK3 GENE; NR0B1 GENE; PGR GENE; PRIORITY JOURNAL; RISK ASSESSMENT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; WOMEN'S HEALTH; BREAST TUMOR; CAUCASIAN; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; PATHOLOGY; RISK FACTOR;

ADULT; AFRICAN AMERICANS; AGED; BREAST NEOPLASMS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GONADAL STEROID HORMONES; HUMANS; METABOLIC NETWORKS AND PATHWAYS; MIDDLE AGED; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; RISK FACTORS;

EID: 84945442634     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-015-3594-x     Document Type: Article

References (96)

1. Siegel R, Ma J, Zou Z, Jemal A (2014) Cancer statistics, 2014: cancer Statistics, 2014. CA Cancer J Clin 64:9–29. doi:10.3322/caac.21208
2. Joslyn SA, West MM (2000) Racial differences in breast carcinoma survival. Cancer 88:114–123
3. Carey LA, Perou CM, Livasy CA et al (2006) Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 295:2492–2502
4. Bauer KR, Brown M, Cress RD et al (2007) Descriptive analysis of estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, and HER2-negative invasive breast cancer, the so-called triple-negative phenotype: a population-based study from the California cancer Registry. Cancer 109:1721–1728. doi:10.1002/cncr.22618
5. Huo D, Ikpatt F, Khramtsov A et al (2009) Population differences in breast cancer: survey in indigenous African women reveals over-representation of triple-negative breast cancer. J Clin Oncol 27:4515–4521. doi:10.1200/JCO.2008.19.6873
6. Stark A, Kleer CG, Martin I et al (2010) African ancestry and higher prevalence of triple-negative breast cancer: findings from an international study. Cancer 116:4926–4932. doi:10.1002/cncr.25276
7. Hunter DJ, Riboli E, Haiman CA et al (2005) A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nat Rev Cancer 5:977–985. doi:10.1038/nrc1754
8. Nandi S, Guzman RC, Yang J (1995) Hormones and mammary carcinogenesis in mice, rats, and humans: a unifying hypothesis. Proc Natl Acad Sci 92:3650–3657
9. Mitrunen K, Hirvonen A (2003) Molecular epidemiology of sporadic breast cancer. Mutat Res Mutat Res 544:9–41. doi:10.1016/S1383-5742(03)00016-4
10. Liehr JG (2000) Is Estradiol a Genotoxic Mutagenic Carcinogen? 1. Endocr Rev 21:40–54
11. Jefcoate CR, Liehr JG, Santen RJ et al (2000) Tissue-specific synthesis and oxidative metabolism of estrogens. JNCI Monogr 2000:95–112
12. Cavalieri EL, Stack DE, Devanesan PD et al (1997) Molecular origin of cancer: catechol estrogen-3, 4-quinones as endogenous tumor initiators. Proc Natl Acad Sci 94:10937–10942
13. Yue W, Santen R, Wang J-P et al (2003) Genotoxic metabolites of estradiol in breast: potential mechanism of estradiol induced carcinogenesis. J Steroid Biochem Mol Biol 86:477–486. doi:10.1016/S0960-0760(03)00377-7
14. Henderson BE, Feigelson HS (2000) Hormonal carcinogenesis. Carcinogenesis 21:427–433
15. Millikan RC, Newman B, Tse C-K et al (2008) Epidemiology of basal-like breast cancer. Breast Cancer Res Treat 109:123–139
16. Palmer JR, Boggs DA, Wise LA et al (2011) Parity and lactation in relation to estrogen receptor negative breast cancer in African American women. Cancer Epidemiol Biomarkers Prev 20:1883–1891. doi:10.1158/1055-9965.EPI-11-0465
17. Palmer JR, Viscidi E, Troester MA et al (2014) Parity, lactation, and breast cancer subtypes in African American women: results from the AMBER consortium. J Natl Cancer Inst. doi:10.1093/jnci/dju237
18. Rosenberg L, Boggs DA, Wise LA et al (2010) Oral contraceptive use and estrogen/progesterone receptor-negative breast cancer among African American women. Cancer Epidemiol Biomarkers Prev 19:2073–2079. doi:10.1158/1055-9965.EPI-10-0428
19. Ross RK, Paganini-Hill A, Wan PC, Pike MC (2000) Effect of hormone replacement therapy on breast cancer risk: estrogen versus estrogen plus progestin. J Natl Cancer Inst 92:328–332
20. Olsson H, Bladström A, Ingvar C, Möller TR (2001) A population-based cohort study of HRT use and breast cancer in southern Sweden. Br J Cancer 85:674
21. Beral V, Bull D, Doll R et al (1997) Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52, 705 women with breast cancer and 108, 411 women without breast cancer. Lancet 350:1047–1059
22. Rossouw JE, Anderson GL, Prentice RL et al (2002) Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results from the women’s health initiative randomized controlled trial. J Am Med Assoc 288:321–333
23. Ambrosone CB, Zirpoli Z, Hong C-C et al. (2015) Important role of Menarche in development of estrogen receptor negative breast cancer in African American women. J Natl Cancer Inst (in press)
24. Key T, Appleby P, Barnes I et al (2002) Endogenous sex hormones and breast cancer in postmenopausal women: reanalysis of nine prospective studies. J Natl Cancer Inst 94:606–616
25. Woolcott CG, Shvetsov YB, Stanczyk FZ et al (2010) Plasma sex hormone concentrations and breast cancer risk in an ethnically diverse population of postmenopausal women: the Multiethnic Cohort Study. Endocr Relat Cancer 17:125–134. doi:10.1677/ERC-09-0211
26. Missmer SA, Eliassen AH, Barbieri RL, Hankinson SE (2004) Endogenous estrogen, androgen, and progesterone concentrations and breast cancer risk among postmenopausal women. J Natl Cancer Inst 96:1856–1865. doi:10.1093/jnci/djh336
27. Eliassen AH, Missmer SA, Tworoger SS et al (2006) Endogenous steroid hormone concentrations and risk of breast cancer among premenopausal women. J Natl Cancer Inst 98:1406–1415. doi:10.1093/jnci/djj376
28. Kaaks R, Berrino F, Key T et al (2005) Serum sex steroids in premenopausal women and breast cancer risk within the European prospective investigation into cancer and nutrition (EPIC). J Natl Cancer Inst 97:755–765. doi:10.1093/jnci/dji132
29. Cauley JA, Gutai JP, Kuller LH et al (1994) Black-white differences in serum sex hormones and bone mineral density. Am J Epidemiol 139:1035–1046
30. Paracchini V, Pedotti P, Raimondi S et al (2005) A common CYP1B1 polymorphism is associated with 2-OHE1/16-OHE1 urinary estrone ratio. Clin Chem Lab Med 43:702–706. doi:10.1515/CCLM.2005.119
31. Small CM (2005) CYP17 genotype predicts serum hormone levels among pre-menopausal women. Hum Reprod 20:2162–2167. doi:10.1093/humrep/dei054
32. Jasienska G, Kapiszewska M, Ellison PT et al (2006) CYP17 genotypes differ in salivary 17-beta estradiol levels: a study based on hormonal profiles from entire menstrual cycles. Cancer Epidemiol Biomark Prev 15:2131–2135. doi:10.1158/1055-9965.EPI-06-0450
33. Beckmann L, Hüsing A, Setiawan VW et al (2011) Comprehensive analysis of hormone and genetic variation in 36 genes related to steroid hormone metabolism in pre- and postmenopausal women from the breast and prostate cancer cohort consortium (BPC3). J Clin Endocrinol Metab 96:E360–E367. doi:10.1210/jc.2010-0912
34. Haiman CA, Dossus L, Setiawan VW et al (2007) Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res 67:1893–1897. doi:10.1158/0008-5472.CAN-06-4123
35. Zheng W, Long J, Gao Y-T et al (2009) Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41:324–328. doi:10.1038/ng.318
36. Easton DF, Pooley KA, Dunning AM et al (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087–1093. doi:10.1038/nature05887
37. Michailidou K, Hall P, Gonzalez-Neira A et al (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45:353–361. doi:10.1038/ng.2563
38. Ruiz-Narvaez EA, Rosenberg L, Yao S et al (2013) Fine-mapping of the 6q25 locus identifies a novel SNP associated with breast cancer risk in African-American women. Carcinogenesis 34:287–291. doi:10.1093/carcin/bgs334
39. Chen F, Chen GK, Millikan RC et al (2011) Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans. Hum Mol Genet 20:4491–4503. doi:10.1093/hmg/ddr367
40. O’Brien KM, Cole SR, Poole C et al (2014) Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. Am J Epidemiol 179:382–394. doi:10.1093/aje/kwt258
41. Rebbeck TR, DeMichele A, Tran TV et al (2008) Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Carcinogenesis 30:269–274. doi:10.1093/carcin/bgn247
42. Zheng Y, Ogundiran TO, Falusi AG et al (2013) Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers. Carcinogenesis 34:1520–1528. doi:10.1093/carcin/bgt090
43. Cox DG, Blanché H, Pearce CL et al (2006) A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Breast Cancer Res 8:R54
44. Feigelson HS, Cox DG, Cann HM et al (2006) Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Res 66:2468–2475. doi:10.1158/0008-5472.CAN-05-3574
45. Setiawan VW, Schumacher FR, Haiman CA et al (2007) CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiol Biomark Prev 16:2237–2246
46. Breast and Prostate Cancer Cohort Consortium (2008) Haplotypes of the estrogen receptor beta gene and breast cancer risk: haplotypes of ESR2 gene and breast cancer risk. Int J Cancer 122:387–392. doi:10.1002/ijc.23127
47. Canzian F, Kaaks R, Cox DG et al (2009) Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). BMC Cancer 9:257. doi:10.1186/1471-2407-9-257
48. Canzian F, Cox DG, Setiawan VW et al (2010) Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. Hum Mol Genet 19:3873–3884. doi:10.1093/hmg/ddq291
49. Palmer JR, Ambrosone CB, Olshan AF (2014) A collaborative study of the etiology of breast cancer subtypes in African American women: the AMBER consortium. Cancer Causes Control 25:309–319. doi:10.1007/s10552-013-0332-8
50. Newman B, Moorman PG, Millikan R et al (1995) The Carolina breast cancer study: integrating population-based epidemiology and molecular biology. Breast Cancer Res Treat 35:51–60
51. Ambrosone CB, Ciupak GL, Bandera EV et al (2009) Conducting molecular epidemiological research in the age of HIPAA: a multi-institutional case-control study of breast cancer in African-American and European-American women. J Oncol 2009:871250. doi:10.1155/2009/871250
52. Bandera EV, Chandran U, Zirpoli G et al (2013) Rethinking sources of representative controls for the conduct of case-control studies in minority populations. BMC Med Res Methodol 13:71. doi:10.1186/1471-2288-13-71
53. Rosenberg L, Adams-Campbell L, Palmer JR (1995) The black women’s health study: a follow-up study for causes and preventions of illness. J Am Med Women Assoc 50:56–58
54. Kolonel LN, Henderson BE, Hankin JH et al (2000) A multiethnic cohort in Hawaii and Los Angeles: baseline characteristics. Am J Epidemiol 151:346–357
55. Subramanian A, Tamayo P, Mootha VK et al (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA 102:15545–15550
56. McVean GA, Altshuler DM, Durbin RM et al (2012) An integrated map of genetic variation from 1092 human genomes. Nature 491:56–65. doi:10.1038/nature11632
57. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299–1320. doi:10.1038/nature04226
58. Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5:e1000529. doi:10.1371/journal.pgen.1000529
59. Chen F, Chen GK, Stram DO et al (2013) A genome-wide association study of breast cancer in women of African ancestry. Hum Genet 132:39–48. doi:10.1007/s00439-012-1214-y
60. Patterson N, Price AL, Reich D (2006) Population structure and eigenanalysis. PLoS Genet 2:e190. doi:10.1371/journal.pgen.0020190
61. Purcell S, Neale B, Todd-Brown K et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559–575. doi:10.1086/519795
62. Yu K, Li Q, Bergen AW et al (2009) Pathway analysis by adaptive combination of P-values. Genet Epidemiol 33:700–709. doi:10.1002/gepi.20422
63. Liquet B, Truong T (2013) PIGE: self contained gene set analysis for gene- and pathway-environment interaction analysis [R package]. Version 0.9. https://cran.rproject.org/web/packages/PIGE/index.html
64. Yu K, Zhang H (2013) AdaJoint: Adaptive Joint Test [R package]. Version 0.1.7. http://dceg.cancer.gov/tools/analysis/adajoint
65. Melamed P, Savulescu D, Lim S et al (2012) Gonadotrophin-releasing hormone signalling downstream of calmodulin. J Neuroendocrinol 24:1463–1475. doi:10.1111/j.1365-2826.2012.02359.x
66. Zhang H, Slewa A, Janssen E et al (2011) The prognostic value of the orphan nuclear receptor DAX-1 (NROB1) in node-negative breast cancer. Anticancer Res 31:443–449
67. Lanzino M, Maris P, Sirianni R et al (2013) DAX-1, as an androgen-target gene, inhibits aromatase expression: a novel mechanism blocking estrogen-dependent breast cancer cell proliferation. Cell Death Dis 4:e724. doi:10.1038/cddis.2013.235
68. Johnatty SE, Spurdle AB, Beesley J et al (2008) Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Res Treat 109:91–99. doi:10.1007/s10549-007-9627-3
69. Ralph DA, Zhao LP, Aston CE et al (2007) Age-specific association of steroid hormone pathway gene polymorphisms with breast cancer risk. Cancer 109:1940–1948. doi:10.1002/cncr.22634
70. The Breast Cancer Association Consortium (2006) Commonly studied single-nucleotide polymorphisms and breast cancer: results from the breast cancer association consortium. J Natl Cancer Inst 98:1382–1396. doi:10.1093/jnci/djj374
71. Pooley KA (2006) Association of the progesterone receptor gene with breast cancer risk: a single-nucleotide polymorphism tagging approach. Cancer Epidemiol Biomark Prev 15:675–682. doi:10.1158/1055-9965.EPI-05-0679
72. Gaudet MM, Milne RL, Cox A et al (2009) Five polymorphisms and breast cancer risk: results from the breast cancer association consortium. Cancer Epidemiol Biomark Prev 18:1610–1616. doi:10.1158/1055-9965.EPI-08-0745
73. Gabriel CA, Mitra N, DeMichele A, Rebbeck T (2013) Association of progesterone receptor gene (PGR) variants and breast cancer risk in African American women. Breast Cancer Res Treat 139:833–843. doi:10.1007/s10549-013-2592-0
74. Diergaarde B, Potter JD, Jupe ER et al (2008) Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer. Cancer Epidemiol Biomark Prev 17:1751–1759. doi:10.1158/1055-9965.EPI-08-0168
75. Rebbeck TR, Troxel AB, Norman S et al (2007) Pharmacogenetic modulation of combined hormone replacement therapy by progesterone-metabolism genotypes in postmenopausal breast cancer risk. Am J Epidemiol 166:1392–1399. doi:10.1093/aje/kwm239
76. Kotsopoulos J, Tworoger SS, DeVivo I et al (2009) +331G/A variant in the progesterone receptor gene, postmenopausal hormone use and risk of breast cancer. Int J Cancer 125:1685–1691. doi:10.1002/ijc.24477
77. Chambo D, Kemp C, Costa AMM et al (2009) Polymorphism in CYP17, GSTM1 and the progesterone receptor genes and its relationship with mammographic density. Braz J Med Biol Res 42:323–329
78. Giacomazzi J, Aguiar E, Palmero EI et al (2012) Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women. Braz J Med Biol Res 45:891–897. doi:10.1590/S0100-879X2012007500081
79. Zhang H, Li L, Xu Y (2013) CYP1B1 polymorphisms and susceptibility to prostate cancer: a meta-analysis. PLoS One 8:e68634
80. Li C, Long B, Qin X et al (2015) Cytochrome P1B1 (CYP1B1) polymorphisms and cancer risk: a meta-analysis of 52 studies. Toxicology 327:77–86. doi:10.1016/j.tox.2014.11.007
81. Liu J-Y, Yang Y, Liu Z-Z et al (2015) Association between the CYP1B1 polymorphisms and risk of cancer: a meta-analysis. Mol Genet Genomics 290:739–765. doi:10.1007/s00438-014-0946-x
82. Xu W, Zhou Y, Hang X, Shen D (2012) Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis. Mol Biol Rep 39:2821–2829. doi:10.1007/s11033-011-1041-6
83. Wang F, Zou Y-F, Sun G-P et al (2011) Association of CYP1B1 gene polymorphisms with susceptibility to endometrial cancer: a meta-analysis. Eur J Cancer Prev 20:112–120. doi:10.1097/CEJ.0b013e3283410193
84. Economopoulos KP, Sergentanis TN (2010) Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. Breast Cancer Res Treat 122:545–551. doi:10.1007/s10549-009-0728-z
85. Justenhoven C, Pierl CB, Haas S et al (2008) The CYP1B1_1358_GG genotype is associated with estrogen receptor-negative breast cancer. Breast Cancer Res Treat 111:171–177. doi:10.1007/s10549-007-9762-x
86. Huang Z, Fasco MJ, Figge HL et al (1996) Expression of cytochromes P450 in human breast tissue and tumors. Drug Metab Dispos 24:899–905
87. Spink DC, Spink BC, Cao JQ et al (1998) Differential expression of CYP1A1 and CYP1B1 in human breast epithelial cells and breast tumor cells. Carcinogenesis 19:291–298
88. Paracchini V, Raimondi S, Gram IT et al (2007) Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. Am J Epidemiol 165:115–125. doi:10.1093/aje/kwj365
89. Hanna IH, Dawling S, Roodi N et al (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res 60:3440–3444
90. Wen W, Cai Q, Shu X-O et al (2005) Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: results from the shanghai breast cancer study and a meta-analysis. Cancer Epidemiol Biomark Prev 14:329–335
91. Thomas G, Jacobs KB, Kraft P et al (2009) A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41:579–584. doi:10.1038/ng.353
92. Turnbull C, Ahmed S, Morrison J et al (2010) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42:504–507. doi:10.1038/ng.586
93. Reeves GK, Travis RC, Green J et al (2010) Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA 304:426–434
94. Broeks A, Schmidt MK, Sherman ME et al (2011) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 20:3289–3303. doi:10.1093/hmg/ddr228
95. Kim H, Lee J-Y, Sung H et al (2012) A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. Breast Cancer Res 14:R56
96. Glubb DM, Maranian MJ, Michailidou K et al (2015) Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am J Hum Genet 96:5–20. doi:10.1016/j.ajhg.2014.11.009