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Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic

Xiaofeng Wang1, Jeffrey R Haswell, Charles W M Roberts

  • 1Authors' Affiliations: Department of Pediatric Oncology, Dana-Farber Cancer Institute; Division of Hematology/Oncology, Children's Hospital Boston; and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|October 15, 2013
PubMed

Insights

SWI/SNF chromatin remodelers are crucial for gene regulation and development. Mutations in these complexes are frequent in cancers, revealing their role as tumor suppressors and potential therapeutic targets.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Biology

Background:

  • SWI/SNF complexes are ATP-dependent chromatin remodelers essential for gene expression, differentiation, and development.
  • Early evidence linked SWI/SNF dysfunction to pediatric rhabdoid tumors due to SMARCB1/SNF5 inactivation.
  • Recent cancer genome sequencing reveals frequent SWI/SNF subunit mutations across diverse human cancers.

Purpose of the Study:

  • To provide a background on SWI/SNF complexes as newly recognized tumor suppressors.
  • To discuss the mechanisms underlying their tumor suppressor activity.
  • To highlight potential therapeutic targets for SWI/SNF-mutant cancers.

Main Methods:

  • Review of existing literature on SWI/SNF complexes and cancer genomics.
  • Analysis of cancer-genome sequencing data identifying SWI/SNF subunit mutations.
  • Discussion of proposed mechanisms of SWI/SNF tumor suppressor function.

Main Results:

  • SWI/SNF complexes play a significant role in regulating gene expression and cellular processes.
  • Mutations in SWI/SNF subunits are found in approximately 20% of human cancers, approaching p53 mutation frequency.
  • These mutations suggest a broad role for SWI/SNF complexes in cancer development.

Conclusions:

  • SWI/SNF complexes function as critical tumor suppressors.
  • Understanding SWI/SNF mutations provides insights into cancer etiology.
  • Targeting SWI/SNF-mutant cancers represents a promising therapeutic avenue.

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