Genetic Susceptibility To Breast Cancer In A Spanish Population

Introduction. Over the past several years, common genetic variants, usually with minor allele frequency (MAF) u003e 5%, in approximately 70 loci have been identified as breast cancer risk factors via genome-wide association studies (GWAS). There are very few data on these associations in Spanish populations. We used data from the Breast Oncology Galicia Network (BREOGAN) study to assess 67 low MAF coding variants in GWAS-identified loci regions for their association with breast cancer risk, including main effects and stratifications by ER status, tumor grade, and presence/absence of axillary lymph nodes. Methods. The study included 1407 invasive breast cancer cases diagnosed between 1997 and 2013 in the Hospital Universitario de Santiago (CHUS) and Vigo (CHUVI), and 1806 neighborhood matched controls. Multivariate logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). SNP genotyping was done by MALDI-TOF based on MassArray® (SEQUENOM) y iPLEXTM Gold technology in the CeGen, National Genotyping Center in the Galician Foundation of Genomic Medicine. Results. A total of six variants were associated with breast cancer risk at P Conclusion. We identified associations of variants flanking the known susceptibility loci with breast cancer risk in a Spanish population, with evidence of etiologic heterogeneity by tumor subtype and grade. These findings may provide new insights into the etiology of breast cancer as well as future potential therapeutic targets. Citation Format: Manuela Gago-Dominguez, Maite Pena, Maria Torres, Jose L. Soto-Vazquez, Miguel E. Aguado-Barrera, Sara Miranda, Manuel Calaza, Alejandro Novo, Victor M. Munoz, Angel Carracedo, M. Elena Martinez, J. Esteban Castelao. Genetic susceptibility to breast cancer in a Spanish population. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2781. doi:10.1158/1538-7445.AM2015-2781