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Alternative splicing in breast cancer risk

Authors: Duarte, André; Magno, Ramiro; Martel, Paulo; Maia, Ana-Teresa;

Alternative splicing in breast cancer risk

Abstract

Breast cancer has a strong genetic risk component, and recently, cis-regulatory single nucleotide polymorphisms (SNP) have been associated with it. Current efforts are focused on the full understanding of the cis-regulatory mechanisms involved. Most studies functionally characterising GWAS loci for breast cancer, have focused solely on the effect of regulatory SNPs (rSNPs) on transcription factor binding at promoters and enhancers. However, sequence changes can also have potential effects on, for example, splicing, microRNA (miRNA) activity and epigenetic regulation. Here we have initiated the study of genetic variants affecting alternative splicing in breast cancer, by identifying splicing QTLs which are associated with risk. We have used psichomics to quantify alternative splicing isoforms in normal breast RNA-seq data (phs000424.v8.p2 NHGRI GTEx), and mapped the sQTL using tensorQTL. Then we compared the list of significant sQTLs with breast cancer known risk variants, by using gwarapidd to retrieve data from the GWAS Catalog. Results presented are preliminary.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
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Cancer Research