Dysregulation of splicing variants and spliceosome components in breast cancer

Manuel D Gahete1,2,3,4, Natalia Herman-Sanchez1,2,3,4, Antonio C Fuentes-Fayos1,2,3,4

  • 1Maimónides Institute of Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.

Insights

Altered gene splicing and spliceosome machinery are key in breast cancer (BCa) development. This review highlights how splicing dysregulation drives BCa malignancy and poor prognosis.

Area of Science:

  • Molecular Biology
  • Oncology
  • Cancer Research

Background:

  • Splicing dysregulation is a hallmark of metabolic and tumor pathologies.
  • Breast cancer (BCa) exhibits dysregulation of oncogenic splicing variants like HER2, ER, BRCA1, In1-ghrelin, and SST5TMD4.
  • These variants increase BCa malignancy, poor prognosis, and treatment resistance.

Purpose of the Study:

  • To review current knowledge on altered splicing variants and spliceosome components in BCa.
  • To demonstrate the link between splicing alterations and mammary tumorigenesis.

Main Methods:

  • Literature review of studies on splicing variants and spliceosome components in BCa.
  • Compilation of evidence linking splicing alterations to breast cancer development.

Main Results:

  • Altered expression of specific oncogenic splicing variants (In1-ghrelin, SST5TMD4) is identified in BCa.
  • Dysregulation of spliceosome components and splicing factors is closely linked to altered splicing variants.
  • Growing evidence supports the role of splicing process alterations in mammary tumorigenesis.

Conclusions:

  • Splicing dysregulation is a significant factor in breast cancer.
  • Targeting splicing machinery may offer novel therapeutic strategies for BCa.

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