Publications by authors named "Ana Jacinta-Fernandes"
Article Synopsis
- The study develops a new method to identify genetic variants that increase breast cancer risk by focusing on variants in gene regulatory regions, using genome-wide association studies (GWAS) as a basis.
- Through analysis of microarray data from normal breast tissue, the researchers identified over 54,000 differential allelic expression QTLs (daeQTLs) linked to breast cancer risk, mapping these to relevant genes and loci.
- The findings highlight the connection between risk-related genetic variants and gene expression regulation, identifying candidate causal variants at the 5q14.1 locus that may influence breast cancer risk through alternative transcription mechanisms.
Most breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to -regulate the expression of genes. We hypothesise that -regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and/or miRNA binding. To test this, we adapted two miRNA-binding prediction algorithms-TargetScan and miRanda-to perform allele-specific queries, and integrated differential allelic expression (DAE) and expression quantitative trait loci (eQTL) data, to query 150 genome-wide significant ( ) raSNPs, plus proxies.
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