Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

Carcinogenesis

Volumn 35, Issue 5, 2014, Pages 1012-1019

  Purrington, Kristen S ^a   Slager, Susan ^a   Eccles, Diana ^b   Yannoukakos, Drakoulis ^c   Fasching, Peter A ^d,e   Miron, Penelope ^f   Carpenter, Jane ^g   Chang claude, Jenny ^h   Martin, Nicholas G ⁱ   Montgomery, Grant W ⁱ   Kristensen, Vessela ^j,k   Anton Culver, Hoda ^l   Goodfellow, Paul ^m   Tapper, William J ^b   Rafiq, Sajjad ^b   Gerty, Susan M ^b   Durcan, Lorraine ^b   Konstantopoulou, Irene ^c   Fostira, Florentia ^c   Vratimos, Athanassios ^c   Apostolou, Paraskevi ^c   Konstanta, Irene ^c   Kotoula, Vassiliki ⁿ   Lakis, Sotiris ⁿ   Dimopoulos, Meletios A ^o   Skarlos, Dimosthenis ^p   Pectasides, Dimitrios ^o   Fountzilas, George ⁿ   Beckmann, Matthias W ^e   Hein, Alexander ^e   Ruebner, Matthias ^e   Ekici, Arif B ^e   Hartmann, Arndt ^e   Schulz wendtland, Ruediger ^e   Renner, Stefan P ^e   Janni, Wolfgang ^q   Rack, Brigitte ^r   Scholz, Christoph ^q   Neugebauer, Julia ^r   Andergassen, Ulrich ^r   Lux, Michael P ^e   Haeberle, Lothar ^e   Clarke, Christine ^g   Pathmanathan, Nirmala ^s   Rudolph, Anja ^h   Flesch janys, Dieter ^t   Nickels, Stefan ^h   Olson, Janet E ^a   Ingle, James N ^a   Olswold, Curtis ^a   Slettedahl, Seth ^a   Eckel passow, Jeanette E ^a   Anderson, S Keith ^a   Visscher, Daniel W ^a   Cafourek, Victoria L ^a   Sicotte, Hugues ^a   Prodduturi, Naresh ^a   Weiderpass, Elisabete ^u,v,w   Bernstein, Leslie ^x   Ziogas, Argyrios ^l   Ivanovich, Jennifer ^m   Giles, Graham G ^y   Baglietto, Laura ^y   Southey, Melissa ^z   Kosma, Veli Matti ^aa   Fischer, Hans Peter ^ab   Reed, Malcom W R ^ad   Cross, Simon S ^ae   Deming halverson, Sandra ^af   Shrubsole, Martha ^af   Cai, Qiuyin ^af   Shu, Xiao Ou ^af   Daly, Mary ^ag   Weaver, JoEllen ^ah   Ross, Eric ^ag   Klemp, Jennifer ^ai   Sharma, Priyanka ^ai   Torres, Diana ^h,aj   Rüdiger, Thomas ^ak   Wölfing, Heidrun ^ak   Ulmer, Hans Ulrich ^al   Försti, Asta ^h,am   Khoury, Thaer ^an   Kumar, Shicha ^an   Pilarski, Robert ^ao   Shapiro, Charles L ^ap   Greco, Dario ^aq   Heikkilä, Päivi ^aq   Aittomäki, Kristiina ^aq   Blomqvist, Carl ^aq   Irwanto, Astrid ^ar   Liu, Jianjun ^ar   Pankratz, Vernon Shane ^a   Wang, Xianshu ^a   Severi, Gianluca ^y   Mannermaa, Arto ^aa   Easton, Douglas ^as   Hall, Per ^at   Brauch, Hiltrud ^ac   Cox, Angela ^ad   Zheng, Wei ^af   Godwin, Andrew K ^au   Hamann, Ute ^h   Ambrosone, Christine ^an   Toland, Amanda Ewart ^ap   Nevanlinna, Heli ^aq   Vachon, Celine M ^a   Couch, Fergus J ^a   more..

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^f DANA FARBER CANCER INSTITUTE   (United States)

^g WESTMEAD HOSPITAL   (Australia)

^h GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

ⁱ QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^j OSLO UNIVERSITY HOSPITAL   (Norway)

^k UNIVERSITY OF OSLO   (Norway)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m BARNES JEWISH HOSPITAL   (United States)

ⁿ ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^o UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^p METROPOLITAN HOSPITAL   (Greece)

^q UNIVERSITY HOSPITAL ULM   (Germany)

^r LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^s WESTMEAD HOSPITAL   (Australia)

^t UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^u UNIVERSITY OF TROMSØ   (Norway)

^v FOLKHÄLSAN RESEARCH CENTER   (Finland)

^w CANCER REGISTRY OF NORWAY   (Norway)

^x CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^y CANCER EPIDEMIOLOGY CENTRE   (Australia)

^z UNIVERSITY OF MELBOURNE   (Australia)

^aa KUOPIO UNIVERSITY HOSPITAL   (Finland)

^ab UNIVERSITY OF BONN   (Germany)

^ac UNIVERSITY OF TÜBINGEN   (Germany)

^ad IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^ae UNIVERSITY OF SHEFFIELD   (United Kingdom)

^af VANDERBILT INGRAM CANCER CENTER   (United States)

^ag FOX CHASE CANCER CENTER   (United States)

^ah UNIVERSITY OF PENNSYLVANIA   (United States)

^ai UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^aj PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^ak STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^al Frauenklinik der Stadtklinik Baden Baden   (Germany)

^am LUND UNIVERSITY   (Sweden)

^an ROSWELL PARK CANCER INSTITUTE   (United States)

^ao OHIO STATE UNIVERSITY   (United States)

^ap OHIO STATE UNIVERSITY   (United States)

^aq HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^ar GENOME INSTITUTE OF SINGAPORE   (Singapore)

^as UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^at KAROLINSKA INSTITUTE   (Sweden)

^au UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAM29 PROTEIN; BRCA2 PROTEIN; CASPASE 8; EBF1 PROTEIN; ESTROGEN RECEPTOR ALPHA; LGR6 PROTEIN; MKL1 PROTEIN; NTN4 PROTEIN; PEX14 PROTEIN; PROTEIN; PROTEIN MDMX; PTHLH PROTEIN; RAD51L1 PROTEIN; RALY PROTEIN; TOX3 PROTEIN; TRANSCRIPTION FACTOR 7 LIKE 2; UNCLASSIFIED DRUG;

ARTICLE; CANCER RISK; CANCER STAGING; CANCER SUSCEPTIBILITY; CHROMOSOME 11P; CHROMOSOME 11Q; CHROMOSOME 19P; CHROMOSOME 2P; CHROMOSOME 2Q; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; TRIPLE NEGATIVE BREAST CANCER; TUMOR GENE;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 19; ESTROGEN RECEPTOR ALPHA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; TRIPLE NEGATIVE BREAST NEOPLASMS; YOUNG ADULT;

EID: 84901988970     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgt404     Document Type: Article

References (30)

1. Foulkes, W.D. et al. (2010) Triple-negative breast cancer. N. Engl. J. Med., 363, 1938-1948.
2. American Cancer Society. (2012) Breast Cancer Facts&Figures, 2011-2012. American Cancer Society, Atlanta, GA.
3. Bauer, K.R. 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.
4. Nofech-Mozes, S. et al. (2009) Patterns of recurrence in the basal and nonbasal subtypes of triple-negative breast cancers. Breast Cancer Res. Treat., 118, 131-137.
5. Millikan, R.C. et al. (2008) Epidemiology of basal-like breast cancer. Breast Cancer Res. Treat., 109, 123-139.
6. Stevens, K.N. et al. (2013) Genetic susceptibility to triple-negative breast cancer. Cancer Res., 73, 2025-2030.
7. Stevens, K.N. et al. (2012) 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res., 72, 1795-1803.
8. Haiman, C.A. et al. (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat. Genet., 43, 1210-1214.
9. Garcia-Closas, M. et al. (2013) Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat. Genet., 45, 392-398.
10. Siddiq, A. et al. (2012) 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.
11. Michailidou, K. et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet., 45, 353-361.
12. Bojesen, S.E. et al. (2013) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat. Genet., 45, 371-384.
13. French, J.D. et al. (2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet., 92, 489-503.
14. Stevens, K.N. et al. (2011) Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res., 71, 6240-6249.
15. Figueroa, J.D. et al. (2011) Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum. Mol. Genet., 20, 4693-4706.
16. Broeks, A. 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.
17. Milne, R.L. et al. (2011) Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol. Biomarkers Prev., 20, 2222-2231.
18. Mahoney, D.W. et al. (2013) Quality assessment metrics for whole genome gene expression profiling of paraffin embedded samples. BMC Res. Notes, 6, 33.
19. Johnson, A.D. et al. (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics, 24, 2938-2939.
20. Consortium, E.P., et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
21. Ward, L.D. et al. (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res., 40, D930-D934.
22. Rhie, S.K. et al. (2013) Comprehensive functional annotation of seventyone breast cancer risk loci. PLoS One, 8, e63925.
23. Fleming, N.I. et al. (2009) Parathyroid hormone-related protein protects against mammary tumor emergence and is associated with monocyte infiltration in ductal carcinoma in situ. Cancer Res., 69, 7473-7479.
24. Sowers, M.F. et al. (1996) Elevated parathyroid hormone-related peptide associated with lactation and bone density loss. JAMA, 276, 549-554.
25. Southby, J. et al. (1990) Immunohistochemical localization of parathyroid hormone-related protein in human breast cancer. Cancer Res., 50, 7710-7716.
26. Foulstone, E.J. et al. (2013) Insulin-like growth factor binding protein 2 (IGFBP-2) promotes growth and survival of breast epithelial cells: novel regulation of the estrogen receptor. Endocrinology, 154, 1780-1793.
27. Busund, L.T. et al. (2005) Significant expression of IGFBP2 in breast cancer compared with benign lesions. J. Clin. Pathol., 58, 361-366.
28. Yarosh, W. et al. (2008) TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases. Cancer Res., 68, 693-699.
29. Liu, J. et al. (2011) TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model. BMC Dev. Biol., 11, 65.
30. Chlebowski, R.T. et al. (2007) Predicting risk of breast cancer in postmenopausal women by hormone receptor status. J. Natl Cancer Inst., 99, 1695-1705.