Related Experiment Video

Updated: May 29, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

Alternative splicings on p53, BRCA1 and PTEN genes involved in breast cancer

Naoko Okumura1, Hitomi Yoshida, Yasuko Kitagishi

  • 1Department of Environmental Health Science, Nara Women's University, Kita-Uoya Nishimachi, Nara 630-8506, Japan.

Biochemical and Biophysical Research Communications
|September 7, 2011
PubMed

Insights

Alternative splicing generates protein diversity, impacting cell processes and disease. This review focuses on splicing variants of tumor suppressor genes like p53, BRCA1, and PTEN in breast cancer development and diagnostics.

Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • Alternative splicing significantly contributes to transcriptome and proteome diversity.
  • Deregulation of cellular processes via alternative splicing is linked to various human diseases, including cancer.
  • Tumor suppressor genes such as p53, BRCA1, and PTEN are critical in preventing breast cancer.

Purpose of the Study:

  • To review the role of alternative splicing in breast cancer.
  • To highlight cancer-associated splicing variants of key tumor suppressor genes (p53, BRCA1, PTEN).
  • To discuss the potential of these variants as diagnostic and prognostic markers.

Main Methods:

  • Literature review of studies on alternative splicing.
  • Focus on alternative splicing events in p53, BRCA1, and PTEN.
  • Analysis of the implications of splicing variants in breast cancer.

Main Results:

  • Alternative splicing can lead to the production of non-functional or oncogenic protein variants.
  • Specific splicing variants of p53, BRCA1, and PTEN have been identified in breast cancer patients.
  • These variants may influence tumor suppressor activity and disease progression.

Conclusions:

  • Alternative splicing of tumor suppressor genes is implicated in breast cancer pathogenesis.
  • Cancer-associated splicing variants of p53, BRCA1, and PTEN represent promising biomarkers.
  • Understanding alternative splicing patterns can aid in developing novel diagnostic and prognostic strategies for breast cancer.

More Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Related Concept Videos

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are: