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• W1993949095 abstract "Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, ILFamilial Breast cancer is now seen as a polygenic disease. Although several major susceptibility genes, including BRCA1 and BRCA2, have been identified in several cases, breast cancer susceptibility seems to arise from a large number of genetic loci, each conferring a minor influence on overall risk. Recent genome-wide association studies (GWAS), have identified several SNPs that associate with increased risk of breast cancer. Some of the most significant are located in the second intron of the fibroblast growth factor receptor 2 (FGFR2) gene, indicating that the association with breast cancer is mediated through regulation of FGFR2. Functional SNPs within this region map to binding sites for the transcription factors Oct-1, Runx2 and C/EBPβ. Preliminary studies have shown that the Runx2 site is functional only in the minor, disease associated allele, resulting in increased expression of FGFR2 in cancer from patients homozygous for that allele. Moreover, the increased risk conferred by the minor FGFR2 allele is associated most strongly with ER+ breast tumours, suggesting a potential interaction between the two pathways. Our approach is to study the functional role of this new risk locus on the biology of cancer at the regulatory level. To study allele-specific gene expression (ASGE), we are using two surrogate SNP markers in the coding region of FGFR2, [rs755793][1] and rs1047100. Taqman analysis of cDNA and genomic DNA from a panel of breast cancer samples allow us to evaluate the degree of SNP-dependent differential expression in a high throughput manner. Thus our study ultimately will allow us to test the hypothesis that the disease-associated allele of rs2981578 increases FGFR2 expression. Additionally, a genome editing approach using Zinc Finger Nucleases (ZFN) allows us to target the putative ‘regulatory’ SNP in breast cancer cell lines. A change, as small as a single nucleotide, can be made on MFC7 cell line to create new in vitro models that only differ in SNP status. These cell based models will be crucial in the study of the influence of FGFR2 SNPs in tumour initiation and progression. Thus our study will allow for the first time, investigation of the true physiological function of SNP status on breast cancer cell line behaviour.Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 6. doi:1538-7445.AM2012-6 [1]: /lookup/external-ref?link_type=GEN&access_num=rs755793&atom=%2Fcanres%2F72%2F8_Supplement%2F6.atom" @default.
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• W1993949095 date "2012-04-15" @default.
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• W1993949095 title "Abstract 6: Investigating the functional significance of FGFR2 SNP status in breast cancer" @default.
• W1993949095 doi "https://doi.org/10.1158/1538-7445.am2012-6" @default.
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