Document Type
Journal Article
Publication Date
2013
Journal
Scientific Reports
Volume
Volume 3
Inclusive Pages
Article number 2256
Abstract
Using RNA sequencing of triple-negative breast cancer (TNBC), non-TBNC and HER2-positive breast cancer sub-types, here we report novel expressed variants, allelic prevalence and abundance, and coexpression with other variation, and splicing signatures. To reveal the most prevalent variant alleles, we overlaid our findings with cancer- and population-based datasets and validated a subset of novel variants of cancer-related genes: ESRP2, GBP1, TPP1, MAD2L1BP, GLUD2 and SLC30A8. As a proof-of-principle, we demonstrated that a rare substitution in the splicing coordinator ESRP2(R353Q) impairs its ability to bind to its substrate FGFR2 pre-mRNA. In addition, we describe novel SNPs and INDELs in cancer relevant genes with no prior reported association of point mutations with cancer, such as MTAP and MAGED1. For the first time, this study illustrates the power of RNA-sequencing in revealing the variation landscape of breast transcriptome and exemplifies analytical strategies to search regulatory interactions among cancer relevant molecules.
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 License.
APA Citation
Horvath, A., Pakala, S.B., Mudvari, P., Reddy, S.D.N., Ohshiro, K., Casimiro, S., Pires, R., Fuqua, S.A.W., Toi, M., Costa, L., Nair, S.S., Sukumar, S., Kumar, R. (2013). Novel insights into breast cancer genetic variance through RNA sequencing. Scientific Reports, 3:2256.
Peer Reviewed
1
Open Access
1
Comments
Reproduced with permission of Nature, Scientific Reports.