Breast cancer subtypes and previously established genetic risk factors: A bayesian approach

Cancer Epidemiology Biomarkers and Prevention

Volumn 23, Issue 1, 2014, Pages 84-97

  O'Brien, Katie M ^a,b   Cole, Stephen R ^a   Engel, Lawrence S ^a   Bensen, Jeannette T ^a,b   Poole, Charles ^a   Herring, Amy H ^c   Millikan, Robert C ^a,b  

^a IL   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

ADULT; AFRICAN AMERICAN; AGED; ARTICLE; BAYES THEOREM; BREAST CANCER; CANCER CLASSIFICATION; CANCER RISK; CANCER SUSCEPTIBILITY; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; RACE DIFFERENCE; RISK FACTOR; UNITED STATES;

AFRICAN AMERICANS; BAYES THEOREM; BREAST NEOPLASMS; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; NORTH CAROLINA; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TRIPLE NEGATIVE BREAST NEOPLASMS;

EID: 84892714256     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-13-0463     Document Type: Article

References (92)

1. Livasy CA, Perou CM, Karaca G, Cowan DW, Maia D, Jackson S, et al. Identification of a basal-like subtype of breast ductal carcinoma in situ. Hum Pathol 2007;38:197-204.
2. Melchor L, Benítez J. An integrative hypothesis about the origin and development of sporadic and familial breast cancer subtypes. Carcinogenesis 2008;29:1475-82.
3. Millikan RC, Newman B, Tse C, Moorman PG, Conway K, Dressler LG, et al. Epidemiology of basal-like breast cancer. Breast Cancer Res Treat 2008;109:123-39.
4. Yang XR, Chang-Claude J, Goode EL, Couch FJ, Nevanlinna H, Milne RL, et al. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst 2011;103:250-63.
5. Althuis MD, Fergenbaum JH, Garcia-Closas M, Brinton LA, Madigan MP, Sherman ME. Etiology of hormone receptor-defined breast cancer: a systematic reviewof the literature. Cancer Epidemiol Biomarkers Prev 2004;13:1558-68.
6. Ma H, Bernstein L, Pike MC, Ursin G. Reproductive factors and breast cancer risk according to joint estrogen and progesterone receptor status: a meta-analysis of epidemiological studies. Breast Cancer Res 2006;8:R43.
7. Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, et al. Common breast cancer susceptibility loci are associated with triplenegative breast cancer. Cancer Res 2011;71:6240-9.
8. Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, et al. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011;20:3289-303.
9. Han W, Woo JH, Yu J, Lee M, Moon H, Kang D, et al. Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype. Cancer Epidemiol Biomarkers Prev 2011;20:793-8.
10. Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 2013;45:392-8.
11. Perou CM, Sørlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature 2000;406: 747-52.
12. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A 2003;100:8418-23.
13. Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res 2004;10: 5367-74.
14. Carey LA, Perou CM, Livasy CA, Dressler LG, Cowan D, Conway K, et al. Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 2006;295:2492-502.
15. Cheang MCU, Voduc D, Bajdik C, Leung S, McKinney S, Chia SK, et al. Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype. Clin Cancer Res 2008;14:1368-76.
16. Huo D, Ikpatt F, Khramtsov A, Dangou J, Nanda R, Dignam J, et al. Population differences in breast cancer: survey in indigenous African women reveals over-representation of triple-negative breast cancer. J Clin Oncol 2009;27:4515-21.
17. Kurebayashi J, Moriya T, Ishida T, Hirakawa H, Kurosumi M, Akiyama F, et al. The prevalence of intrinsic subtypes and prognosis in breast cancer patients of different races. Breast 2007;16 Suppl 2:S72-7.
18. Lund MJ, Trivers KF, Porter PL, Coates RJ, Leyland-Jones B, Brawley OW, et al. Race and triple negative threats to breast cancer survival: a population-based study in Atlanta, GA. Breast Cancer Res Treat 2009;113:357-70.
19. Parise CA, Bauer KR, Caggiano V. Variation in breast cancer subtypes with age and race/ethnicity. Crit Rev Oncol Hematol 2010;76:44-52.
20. Stark A, Kleer CG, Martin I, Awuah B, Nsiah-Asare A, Takyi V, et al. African ancestry and higher prevalence of triple-negative breast cancer: findings from an international study. Cancer 2010;116:4926-32.
21. Yamamoto Y, Ibusuki M, Nakano M, Kawasoe T, Hiki R, Iwase H. Clinical significance of basal-like subtype in triple-negative breast cancer. Breast Cancer 2009;16:260-7.
22. Perez EA, Romond EH, Suman VJ, Jeong J, Davidson NE, Geyer CE Jr, et al. Four-year follow-up of trastuzumab plus adjuvant chemotherapy for operable human epidermal growth factor receptor 2-positive breast cancer: joint analysis of data from NCCTG N9831 and NSABP B-31. J Clin Oncol 2011;29:3366-73.
23. Bauer KR, Brown M, Cress RD, Parise CA, Caggiano V. Descriptive analysis of estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, and HER2-negative invasive breast cancer, the socalled triple-negative phenotype: a population-based study from the California cancer Registry. Cancer 2007;109:1721-8.
24. O'Brien KM, Cole SR, Tse C, Perou CM, Carey LA, Foulkes WD, et al. Intrinsic breast tumor subtypes, race, and long-term survival in the Carolina Breast Cancer Study. Clin Cancer Res 2010;16:6100-10.
25. US Cancer Morality Statistics [cited 2013 Jan 9]. Available from: http://seer.cancer.gov/canques/mortality.html.
26. Tamimi RM, Colditz GA, Hazra A, Baer HJ, Hankinson SE, Rosner B, et al. Traditional breast cancer risk factors in relation to molecular subtypes of breast cancer. Breast Cancer Res Treat 2012;131: 159-67.
27. Gierach G, Burke A, Anderson WF. Epidemiology of triple negative breast cancers. Breast Dis 2010;32:5-24.
28. Yang XR, Sherman ME, Rimm DL, Lissowska J, Brinton LA, Peplonska B, et al. Differences in risk factors for breast cancer molecular subtypes in a population-based study. Cancer Epidemiol Biomarkers Prev 2007; 16:439-43.
29. Gaudet MM, Press MF, Haile RW, Lynch CF, Glaser SL, Schildkraut J, et al. Risk factors by molecular subtypes of breast cancer across a population-based study of women 56 years or younger. Breast Cancer Res Treat 2011;130:587-97.
30. Phipps AI, Buist DSM, Malone KE, Barlow WE, Porter PL, Kerlikowske K, et al. Family history of breast cancer in first-degree relatives and triple-negative breast cancer risk. Breast Cancer Res Treat 2011; 126:671-8.
31. Phipps AI, Chlebowski RT, Prentice R, McTiernan A, Stefanick ML, Wactawski-Wende J, et al. Body size, physical activity, and risk of triple-negative and estrogen receptor-positive breast cancer. Cancer Epidemiol Biomarkers Prev 2011;20:454-63.
32. Phipps AI, Buist DSM, Malone KE, Barlow WE, Porter PL, Kerlikowske K, et al. Reproductive history and risk of three breast cancer subtypes defined by three biomarkers. Cancer Causes Control 2011;22: 399-405.
33. Phipps AI, Chlebowski RT, Prentice R, McTiernan A, Wactawski-Wende J, Kuller LH, et al. Reproductive history and oral contraceptive use in relation to risk of triple-negative breast cancer. J Natl Cancer Inst 2011;103:470-7.
34. Shinde SS, Forman MR, Kuerer HM, Yan K, Peintinger F, Hunt KK, et al. Higher parity and shorter breastfeeding duration: association with triple-negative phenotype of breast cancer. Cancer 2010;116: 4933-43.
35. Xing P, Li J, Jin F. A case-control study of reproductive factors associated with subtypes of breast cancer in Northeast China. Med Oncol 2010;27:926-31.
36. Ma H, Wang Y, Sullivan-Halley J, Weiss L, Marchbanks PA, Spirtas R, et al. Use of four biomarkers to evaluate the risk of breast cancer subtypes in the women's contraceptive and reproductive experiences study. Cancer Res 2010;70:575-87.
37. Trivers KF, Lund MJ, Porter PL, Liff JM, Flagg EW, Coates RJ, et al. The epidemiology of triple-negative breast cancer, including race. Cancer Causes Control 2009;20:1071-82.
38. Dolle JM, Daling JR, White E, Brinton LA, Doody DR, Porter PL, et al. Risk factors for triple-negative breast cancer in women under the age of 45 years. Cancer Epidemiol Biomarkers Prev 2009;18:1157-66.
39. Kwan ML, Kushi LH, Weltzien E, Maring B, Kutner SE, Fulton RS, et al. Epidemiology of breast cancer subtypes in two prospective cohort studies of breast cancer survivors. Breast Cancer Res 2009;11:R31.
40. Stead LA, Lash TL, Sobieraj JE, Chi DD, Westrup JL, Charlot M, et al. Triple-negative breast cancers are increased in black women regardless of age or body mass index. Breast Cancer Res 2009;11:R18.
41. Phipps AI, Malone KE, Porter PL, Daling JR, Li CI. Reproductive and hormonal risk factors for postmenopausal luminal, HER-2-overexpressing, and triple-negative breast cancer. Cancer 2008;113:1521-6.
42. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-9.
43. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-90.
44. Hindorff LA, MacArthur J (European Bioinformatics Institute)Morales J (European Bioinformatics Institute), et al. A catalog of published genome-wide association studies [cited 2013 Jan 13]. Available from: www.genome.gov/ gwastudies.
45. Zhang B, Beeghly-Fadiel A, Long J, Zheng W. Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 2011;12: 477-88.
46. Evans DG, Howell A, Ward D, Lalloo F, Jones JL, Eccles DM. Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer. J Med Genet 2011;48:520-2.
47. Haffty BG, Yang Q, Reiss M, Kearney T, Higgins SA, Weidhaas J, et al. Locoregional relapse and distant metastasis in conservatively managed triple negative early-stage breast cancer. J Clin Oncol 2006; 24:5652-7.
48. Lee E, McKean-Cowdin R, Ma H, Spicer DV, Van Den Berg D, Bernstein L, et al. Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. J Clin Oncol 2011;29:4373-80.
49. Foulkes WD, Stefansson IM, Chappuis PO, Bégin LR, Goffin JR, Wong N, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 2003;95:1482-5.
50. Hunter DJ. Lessons from genome-wide association studies for epidemiology. Epidemiology 2012;23:363-7.
51. Newman B, Moorman PG, Millikan R, Qaqish BF, Geradts J, Aldrich TE, et al. The Carolina Breast Cancer Study: integrating population-based epidemiology and molecular biology. Breast Cancer Res Treat 1995; 35:51-60.
52. Weinberg CR, Sandler DP. Randomized recruitment in case-control studies. Am J Epidemiol 1991;134:421-32.
53. Huang WY, Newman B, Millikan RC, Schell MJ, Hulka BS, Moorman PG. Hormone-related factors and risk of breast cancer in relation to estrogen receptor and progesterone receptor status. Am J Epidemiol 2000;151:703-14.
54. Millikan R, Eaton A, Worley K, Biscocho L, Hodgson E, Huang W, et al. HER2 codon 655 polymorphism and risk of breast cancer in African Americans and whites. Breast Cancer Res Treat 2003;79:355-64.
55. Long J, Cai Q, Shu X, Qu S, Li C, Zheng Y, et al. Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium. PLoS Genet 2010;6:e1001002.
56. 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.
57. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, 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;41:579-84.
58. Zheng W, Long J, Gao Y, Li C, Zheng Y, Xiang Y, et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009;41:324-8.
59. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J, et al. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A 2008; 105:4340-5.
60. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007;39:870-4.
61. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007;39:865-9.
62. Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447:1087-93.
63. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 2009;41:585-90.
64. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, Jonsson GF, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008;40:703-6.
65. Thomas DC, Witte JS. Point: population stratification: a problem for case-control studies of candidate-gene associations? Cancer Epidemiol Biomarkers Prev 2002;11:505-12.
66. Barnholtz-Sloan JS, McEvoy B, Shriver MD, Rebbeck TR. Ancestry estimation and correction for population stratification in molecular epidemiologic association studies. Cancer Epidemiol Biomarkers Prev 2008;17:471-7.
67. Nyante SJ, Gammon MD, Kaufman JS, Bensen JT, Lin DY, Barnholtz-Sloan JS, et al. Common genetic variation in adiponectin, leptin, and leptin receptor and association with breast cancer subtypes. Breast Cancer Res Treat 2011;129:593-606.
68. Bortsov AV, Millikan RC, Belfer I, Boortz-Marx RL, Arora H, McLean SA. m-Opioid receptor gene A118G polymorphism predicts survival in patients with breast cancer. Anesthesiology 2012;116:896-902.
69. Greenland S. Bayesian perspectives for epidemiological research. I. Foundations and basic methods. Int J Epidemiol 2006;35:765-75.
70. Gill J. Bayesian methods: a social and behavioral sciences approach (2). Boca Raton, FL: Chapman and Hall/CRC Press; 2002.
71. Cole SR, Chu H, Greenland S, Hamra G, Richardson DB. Bayesian posterior distributions without Markov chains. Am J Epidemiol 2012; 175:368-75.
72. Udler MS, Meyer KB, Pooley KA, Karlins E, Struewing JP, Zhang J, et al. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum Mol Genet 2009;18:1692-703.
73. Kim H, Lee J, Sung H, Choi J, Park SK, Lee K, et al. 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 2012;14:R56.
74. Slattery ML, Baumgartner KB, Giuliano AR, Byers T, Herrick JS, Wolff RK. Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States. Breast Cancer Res Treat 2011;129:531-9.
75. Long J, Shu X, Cai Q, Gao Y, Zheng Y, Li G, et al. Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev 2010;19:2357-65.
76. Campa D, Kaaks R, Le Marchand L, Haiman CA, Travis RC, Berg CD, et al. Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst 2011;103:1252-63.
77. Reeves GK, Travis RC, Green J, Bull D, Tipper S, Baker K, et al. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA 2010;304: 426-34.
78. Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet 2008;4:e1000054.
79. Rebbeck TR, DeMichele A, Tran TV, Panossian S, Bunin GR, Troxel AB, et al. 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 2009;30:269-74.
80. Palmer JR, Ruiz-Narvaez EA, Rotimi CN, Cupples LA, Cozier YC, Adams-Campbell LL, et al. Genetic susceptibility Loci for subtypes of breast cancer in an African American population. Cancer Epidemiol Biomarkers Prev 2013;22:127-34.
81. Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, et al. 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat 2012;33:1123-32.
82. 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.
83. Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, et al. Acommonvariant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 2011;43:1210-4.
84. Stevens KN, Fredericksen Z, Vachon CM, Wang X, Margolin S, Lindblom A, et al. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res 2012;72:1795-803.
85. Hamra GB, Maclehose RF, Cole SR. Sensitivity analyses for sparsedata problems-using weakly informative Bayesian priors. Epidemiology 2013;24:233-9.
86. Ma CX, Luo J, Ellis MJ. Molecular profiling of triple negative breast cancer. Breast Dis 2011;32:73-84.
87. Perou CM. Molecular stratification of triple-negative breast cancers. Oncologist 2011;16 Suppl 1:61-70.
88. Rody A, Karn T, Liedtke C, Pusztai L, Ruckhaeberle E, Hanker L, et al. A clinically relevant gene signature in triple negative and basal-like breast cancer. Breast Cancer Res 2011;13:R97.
89. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 2012;490:61-70.
90. Kerlikowske K. Epidemiology of ductal carcinoma in situ. J Natl Cancer Inst Monogr 2010;2010;139-41.
91. Phillips LS, Millikan RC, Schroeder JC, Barnholtz-Sloan JS, Levine BJ. Reproductive and hormonal risk factors for ductal carcinoma in situ of the breast. Cancer Epidemiol Biomarkers Prev 2009;18:1507-14.
92. Zhou W, Jirström K, Johansson C, Amini R, Blomqvist C, Agbaje O, et al. Long-term survival of women with basal-like ductal carcinoma in situ of the breast: a population-based cohort study. BMC Cancer 2010;10:653.