Related Experiment Video

Updated: May 14, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

The spectrum of SWI/SNF mutations, ubiquitous in human cancers

A Hunter Shain1, Jonathan R Pollack

  • 1Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America.

Plos One
|January 29, 2013
PubMed

Insights

The SWI/SNF chromatin remodeling complex acts as a tumor suppressor across many cancers. This study reveals widespread SWI/SNF mutations, particularly in SMARCA4 and ARID1A, highlighting its crucial role in diverse human cancers.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The SWI/SNF complex is involved in chromatin remodeling and gene expression.
  • Evidence suggests SWI/SNF acts as a tumor suppressor in certain cancers.
  • The full spectrum of SWI/SNF mutations in human cancers remains uncharacterized.

Purpose of the Study:

  • To systematically investigate the frequency and spectrum of SWI/SNF mutations across various human cancers.
  • To identify specific subunits most frequently mutated in cancer.
  • To understand the relationship between SWI/SNF mutations and other cancer-associated genes.

Main Methods:

  • Analysis of whole-exome sequencing data from 669 cancer cases across 18 diagnoses.
  • Mining of 24 published studies for SWI/SNF mutation data.
  • Comparison of SWI/SNF mutation frequencies with known cancer genes like TP53.

Main Results:

  • SWI/SNF mutations are prevalent across diverse human cancers, with a high proportion of deleterious mutations.
  • Mutations frequently affect the SMARCA4 enzymatic subunit and specificity subunits (ARID1A, ARID1B, PBRM1, ARID2).
  • SWI/SNF mutations co-occur with mutations in other cancer genes, including TP53 and EZH2.

Conclusions:

  • SWI/SNF is a significant, yet under-recognized, tumor suppressor across a wide range of human cancers.
  • These findings provide a valuable resource for future research into SWI/SNF's role in tumorigenesis.
  • Understanding SWI/SNF mutation patterns is critical for cancer biology and therapeutic strategies.

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).