Article
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Breast cancer research : BCR - 31 May 2017
Melloni Giorgio E M, Mazzarella Luca, Bernard Loris, Bodini Margherita, Russo Anna, Luzi Lucilla, Pelicci Pier Giuseppe, Riva Laura
Abstract excerpt
BACKGROUND: The landscape of cancer-predisposing genes has been extensively investigated in the last 30 years with various methodologies ranging from candidate gene to genome-wide association studies. However, sequencing data are still poorly exploited in cancer predisposition studies due to the lack of statistical power when comparing millions of variants at once. METHOD: To overcome these power limitations, we...
Topics
- Age Factors
- Alleles
- Biomarkers, Tumor
- Breast Neoplasms
- Case-Control Studies
- Epistasis, Genetic
- Female
- Gene Frequency
- Genes, BRCA1
- Genes, BRCA2
- Genetic Predisposition to Disease