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Splicing dysregulation as a driver of breast cancer
Abigail Read1,2, Rachael Natrajan3,2
1The Breast Cancer Now Toby Robins Research CentreThe Institute of Cancer Research, London, UK.
Abstract:
Breast cancer is known to be a heterogeneous disease driven by a large repertoire of molecular abnormalities, which contribute to its diverse clinical behaviour. Despite the success of targeted therapy approaches for breast cancer patient management, there is still a lack of the molecular understanding of aggressive forms of the disease and clinical management of these patients remains difficult. The advent of high-throughput sequencing technologies has paved the way for a more complete understanding of the molecular make-up of the breast cancer genome. As such, it is becoming apparent that disruption of canonical splicing within breast cancer governs its clinical progression. In this review, we discuss the role of dysregulation of spliceosomal component genes and associated factors in the progression of breast cancer, their role in therapy resistance and the use of quantitative isoform expression as potential prognostic and predictive biomarkers with a particular focus on oestrogen receptor-positive breast cancer.
Insights
Altered splicing in breast cancer drives disease progression and therapy resistance. Quantitative analysis of splice variants offers new prognostic and predictive biomarkers, especially for oestrogen receptor-positive breast cancer.
Area of Science:
- Oncology
- Molecular Biology
- Genomics
Background:
- Breast cancer is a complex, heterogeneous disease with diverse clinical behaviors.
- Targeted therapies have improved patient management, but aggressive forms remain challenging due to limited molecular understanding.
- High-throughput sequencing reveals the critical role of splicing dysregulation in breast cancer progression.
Purpose of the Study:
- To review the role of spliceosomal gene dysregulation in breast cancer progression.
- To explore the involvement of splicing in therapy resistance.
- To highlight quantitative isoform expression as potential biomarkers for breast cancer, particularly oestrogen receptor-positive subtypes.
Main Methods:
- Literature review of studies on splicing machinery and breast cancer.
- Analysis of high-throughput sequencing data related to gene expression and splicing.
- Focus on oestrogen receptor-positive breast cancer molecular characteristics.
Main Results:
- Dysregulation of spliceosomal components significantly impacts breast cancer progression.
- Aberrant splicing contributes to therapeutic resistance in breast cancer.
- Quantitative isoform expression patterns show promise as prognostic and predictive biomarkers.
Conclusions:
- Splicing alterations are key drivers of breast cancer heterogeneity and clinical outcomes.
- Targeting splicing pathways or utilizing isoform expression may offer novel therapeutic and diagnostic strategies.
- Further research into splicing in oestrogen receptor-positive breast cancer is warranted.
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