FGFR2 risk SNPs confer breast cancer risk by augmenting oestrogen responsiveness

Carcinogenesis

Volumn 37, Issue 8, 2016, Pages 741-750

  Campbel, Thomas M ^a   Castro, Mauro A A ^b   De Santiago, Ines ^a   Fletcher, Michael N C ^a,c   Halim, Silvia ^a,d   Prathalingam, Radhika ^a,e   Ponder, Bruce A J ^a   Meyer, Kerstin B ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d BEATSON INSTITUTE FOR CANCER RESEARCH   (United Kingdom)

^e ABCAM PLC   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; ESTROGEN RECEPTOR ALPHA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR ALPHA, HUMAN; FGFR2 PROTEIN, HUMAN;

ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FGFR2 GENE; GENE EXPRESSION; GENE LOCUS; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HORMONE RESPONSE; HUMAN; HUMAN CELL; ONCOGENE; PRIORITY JOURNAL; PROMOTER REGION; REGULON; SIGNAL TRANSDUCTION; SILENCER ELEMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; TRANSIENT TRANSFECTION; WILD TYPE; BIOSYNTHESIS; BREAST TUMOR; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HAPLOTYPE; MCF-7 CELL LINE; METABOLISM; PATHOLOGY; SYSTEMS BIOLOGY;

BREAST NEOPLASMS; ESTROGEN RECEPTOR ALPHA; ESTROGENS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HUMANS; MCF-7 CELLS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SIGNAL TRANSDUCTION; SYSTEMS BIOLOGY;

EID: 84982903342     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgw065     Document Type: Article

References (48)

1. Jemal, A. et al. (2011) Global cancer statistics. CA Cancer J. Clin., 61, 69-90.
2. Roy, R. et al. (2012) BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat. Rev. Cancer, 12, 68-78.
3. Easton, D.F. et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447, 1087-1093.
4. Hunter, D.J. et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet., 39, 870-874.
5. Garcia-Closas, M. et al. (2008) Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet., 4, e1000054.
6. Liang, J. et al. (2008) Genetic variants in fibroblast growth factor receptor 2 (FGFR2) contribute to susceptibility of breast cancer in Chinese women. Carcinogenesis, 29, 2341-2346.
7. Udler, M.S. et al. (2009) FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum. Mol. Genet., 18, 1692-1703.
8. Barnholtz-Sloan, J.S. et al. (2010) FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. Carcinogenesis, 31, 1417-1423.
9. Orr, N. et al. (2011) Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men. PLoS Genet., 7, e1002290.
10. Michailidou, K. et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet., 45, 353-361, 361e1-2.
11. Salehi, Z. et al. (2015) Evaluation of FGFR2 gene polymorphism in women with breast cancer. Cell. Mol. Biol. (Noisy-le-grand), 61, 94-97.
12. Raskin, L. et al. (2008) FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Cancer Epidemiol. Biomark. Prev., 17, 1060-1065.
13. Dillon, C. et al. (2004) A crucial role for fibroblast growth factor signaling in embryonic mammary gland development. J. Mammary Gland Biol. Neoplasia, 9, 207-215.
14. Parsa, S. et al. (2008) Terminal end bud maintenance in mammary gland is dependent upon FGFR2b signaling. Dev. Biol., 317, 121-131.
15. Cerliani, J.P. et al. (2012) Associated expressions of FGFR-2 and FGFR-3: from mouse mammary gland physiology to human breast cancer. Breast Cancer Res. Treat., 133, 997-1008.
16. Pond, A.C. et al. (2013) Fibroblast growth factor receptor signaling is essential for normal mammary gland development and stem cell function. Stem Cells, 31, 178-189.
17. Kim, S. et al. (2013) FGFR2 promotes breast tumorigenicity through maintenance of breast tumor-initiating cells. PLoS One, 8, e51671.
18. Zhu, X. et al. (2010) Genetic and epigenetic mechanisms down-regulate FGF receptor 2 to induce melanoma-associated antigen A in breast cancer. Am. J. Pathol., 176, 2333-2343.
19. Edwards, S.L. et al. (2013) Beyond GWASs: illuminating the dark road from association to function. Am. J. Hum. Genet., 93, 779-797.
20. Meyer, K.B. et al. (2013) Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am. J. Hum. Genet., 93, 1046-1060.
21. Meyer, K.B. et al. (2008) Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol., 6, e108.
22. Sun, C. et al. (2010) rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet. Cytogenet., 197, 193-194.
23. Huijts, P.E. et al. (2011) Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10. Breast Cancer Res., 13, R72.
24. Itoh, N. et al. (2014) Fgf10: a paracrine-signaling molecule in development, disease, and regenerative medicine. Curr. Mol. Med., 14, 504-509.
25. Zhang, X. et al. (2014) FGF ligands of the postnatal mammary stroma regulate distinct aspects of epithelial morphogenesis. Development, 141, 3352-3362.
26. Dunning, M.J. et al. (2007) beadarray: R classes and methods for Illumina bead-based data. Bioinformatics, 23, 2183-2184.
27. Livak, K.J. et al. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods, 25, 402-408.
28. Schmidt, D. et al. (2009) ChIP-seq: using high-throughput sequencing to discover protein-DNA interactions. Methods, 48, 240-248.
29. Smyth, G.K. (2004) Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol., 3, Article3.
30. Fletcher, M.N. et al. (2013) Master regulators of FGFR2 signalling and breast cancer risk. Nat. Commun., 4, 2464.
31. Curtis, C. et al. (2012) The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature, 486, 346-352.
32. Subramanian, A. 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.
33. Lamb, J. et al. (2006) The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease. Science, 313, 1929-1935.
34. Castro, M.A.A. et al. (2014) RTN: reconstruction of transcriptional networks and analysis of master regulators. R package. http://bioconductor.org/packages/release/bioc/html/RTN.html (14 October 2015, date last accessed).
35. Cen, Y.L. et al. (2013) Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status. Mol. Carcinog., 52 (suppl. 1), E52-E59.
36. O'Brien, K.M. et al. (2014) Breast cancer subtypes and previously established genetic risk factors: a Bayesian approach. Cancer Epidemiol. Biomark. Prev., 23, 84-97.
37. Slattery, M.L. et al. (2013) Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study. Breast Cancer Res. Treat., 140, 587-601.
38. Basso, K. et al. (2005) Reverse engineering of regulatory networks in human B cells. Nat. Genet., 37, 382-390.
39. Tannheimer, S.L. et al. (2000) Characterization of fibroblast growth factor receptor 2 overexpression in the human breast cancer cell line SUM-52PE. Breast Cancer Res., 2, 311-320.
40. Zhang, X. et al. (2006) Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. J. Biol. Chem., 281, 15694-15700.
41. Cui, Y. et al. (2013) Expression and functions of fibroblast growth factor 10 in the mouse mammary gland. Int. J. Mol. Sci., 14, 4094-4105.
42. Advani, P. et al. (2014) Current strategies for the prevention of breast cancer. Breast Cancer (Dove Med. Press), 6, 59-71.
43. Ban, K.A. et al. (2014) Epidemiology of breast cancer. Surg. Oncol. Clin. N. Am., 23, 409-422.
44. Clemons, M. et al. (2001) Estrogen and the risk of breast cancer. N. Engl. J. Med., 344, 276-285.
45. Seo, J.H. et al. (2013) Deconvoluting complex tissues for expression quantitative trait locus-based analyses. Philos. Trans. R. Soc. Lond. B. Biol. Sci., 368, 20120363.
46. Prentice, R.L. et al. (2009) Variation in the FGFR2 gene and the effects of postmenopausal hormone therapy on invasive breast cancer. Cancer Epidemiol. Biomark. Prev., 18, 3079-3085.
47. Andersen, S.W. et al. (2013) Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study. Menopause, 20, 354-358.
48. Rebbeck, T.R. et al. (2009) 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.