Publications by authors named "Andre Besouro-Duarte"

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.
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Genome-wide association studies (GWASs) have revealed numerous loci associated with breast cancer risk, yet the precise causal variants, their impact on molecular mechanisms, and the affected genes often remain elusive. We hypothesised that specific variants exert their influence by affecting cis-regulatory alternative splice elements. An analysis of splicing quantitative trait loci (sQTL) in healthy breast tissue from female individuals identified multiple variants linked to alterations in splicing ratios.

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