Related Experiment Video
Updated: Jun 13, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer
André Besouro-Duarte1,2, Beatriz Carrasqueiro2, Sofia Sousa2
1CINTESIS@RISE, Universidade do Algarve, 8005-139 Faro, Portugal.
Researchers identified genetic variants affecting gene splicing in breast tissue, potentially linking them to breast cancer risk. These findings may aid in developing new biomarkers for early breast cancer detection.
Area of Science:
- Genomics
- Molecular Biology
- Cancer Research
Background:
- Genome-wide association studies (GWASs) have identified numerous breast cancer risk loci.
- The precise causal variants and their molecular mechanisms remain largely unknown.
Purpose of the Study:
- To investigate the role of cis-regulatory alternative splice elements in breast cancer risk.
- To identify causal variants influencing splicing and their association with GWAS findings.
Main Methods:
- Analysis of splicing quantitative trait loci (sQTL) in healthy breast tissue.
- Colocalisation analysis to link sQTL and GWAS data.
- In silico splice analysis of candidate genes.
Main Results:
- Identified multiple variants associated with altered splicing ratios in breast tissue.
- Pinpointed 43 variants in 12 genes as candidate causal links between sQTL and GWAS findings.
- Highlighted potential splice-modulating mechanisms for FDPS, SGCE, and MRPL11.
Conclusions:
- Genetic variants affecting alternative splicing are implicated in breast cancer risk.
- Identified candidate causal variants warrant further in vitro/vivo investigation.
- These variants may serve as potential biomarkers for breast cancer risk assessment and early detection.
More Related Videos
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
09:52Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
Published on: April 19, 2013
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
RNA Splicing
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
lncRNA - Long Non-coding RNAs
Single Nucleotide Polymorphisms-SNPs
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...