The role of alternative splicing in cancer

B Singh, E Eyras - Transcription, 2017 - Taylor & Francis
The functional capacity of cells is defined by the transcriptome. Many recent studies have
identified variations in the transcriptome of tumors due to alternative splicing changes, as …

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

A Sveen, S Kilpinen, A Ruusulehto, RA Lothe… - Oncogene, 2016 - nature.com
Alternative splicing is a widespread process contributing to structural transcript variation and
proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both …

Aberrant splicing isoforms detected by full-length transcriptome sequencing as transcripts of potential neoantigens in non-small cell lung cancer

M Oka, L Xu, T Suzuki, T Yoshikawa, H Sakamoto… - Genome biology, 2021 - Springer
Background Long-read sequencing of full-length cDNAs enables the detection of structures
of aberrant splicing isoforms in cancer cells. These isoforms are occasionally translated …

Identification of alternative splicing events regulated by the oncogenic factor SRSF1 in lung cancer

FJ de Miguel, RD Sharma, MJ Pajares, LM Montuenga… - Cancer research, 2014 - AACR
Abnormal alternative splicing has been associated with cancer. Genome-wide microarrays
can be used to detect differential splicing events. In this study, we have developed …

Pan-cancer analysis of clinical relevance of alternative splicing events in 31 human cancers

Y Zhang, L Yan, J Zeng, H Zhou, H Liu, G Yu, W Yao… - Oncogene, 2019 - nature.com
Alternative splicing represents a critical posttranscriptional regulation of gene expression,
which contributes to the protein complexity and mRNA processing. Defects of alternative …

Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types

M Seiler, S Peng, AA Agrawal, J Palacino, T Teng… - Cell reports, 2018 - cell.com
Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

A comprehensive characterization of cis-acting splicing-associated variants in human cancer

Y Shiraishi, K Kataoka, K Chiba, A Okada… - Genome …, 2018 - genome.cshlp.org
Although many driver mutations are thought to promote carcinogenesis via abnormal
splicing, the landscape of splicing-associated variants (SAVs) remains unknown due to the …

Alternative splicing and cancer: insights, opportunities, and challenges from an expanding view of the transcriptome

S Cherry, KW Lynch - Genes & Development, 2020 - genesdev.cshlp.org
Over the past decade there has been increased awareness of the potential role of
alternative splicing in the etiology of cancer. In particular, advances in RNA-Sequencing …

Alternative splicing and tumor progression

C Ghigna, C Valacca, G Biamonti - Current genomics, 2008 - ingentaconnect.com
Alternative splicing is a key molecular mechanism for increasing the functional diversity of
the eukaryotic proteomes. A large body of experimental data implicates aberrant splicing in …

Improved methods for RNAseq-based alternative splicing analysis

RF Halperin, A Hegde, JD Lang, EA Raupach… - Scientific reports, 2021 - nature.com
The robust detection of disease-associated splice events from RNAseq data is challenging
due to the potential confounding effect of gene expression levels and the often limited …