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Association of two BRM promoter polymorphisms with head and neck squamous cell carcinoma risk

Jennifer R Wang1, Sarah J B Gramling, David P Goldstein

  • 1Department of Otolaryngology-Head and Neck Surgery, University Health Network, Princess Margaret Hospital, Toronto, Ontario M5G 2M9, Canada. jennyr.wang@utoronto.ca

Carcinogenesis
|January 17, 2013
PubMed

Insights

Loss of Brahma (BRM) expression, a key component of the SWI/SNF complex, is linked to head and neck squamous cell carcinoma (HNSCC). Specific BRM promoter polymorphisms significantly increase HNSCC risk, suggesting their use as susceptibility markers.

Area of Science:

  • Genetics and Epigenetics
  • Cancer Biology
  • Molecular Oncology

Background:

  • The SWI/SNF chromatin remodeling complex regulates gene expression and is implicated in cancer.
  • Loss of Brahma (BRM), a catalytic subunit of SWI/SNF, is observed in various solid tumors.
  • BRM promoter polymorphisms (BRM-741 and BRM-1321) have been associated with BRM loss and increased cancer risk.

Purpose of the Study:

  • To investigate BRM expression in head and neck squamous cell carcinoma (HNSCC).
  • To determine the association between BRM promoter polymorphisms and HNSCC risk.

Main Methods:

  • BRM expression analysis in HNSCC cell lines and tumor samples.
  • A case-control study involving 668 HNSCC patients and 700 healthy controls.
  • Genotyping for BRM-741 and BRM-1321 polymorphisms.

Main Results:

  • BRM expression was lost in 25% of cell lines and 16% of tumors.
  • Homozygous genotypes for BRM-741 and BRM-1321 were significantly associated with increased HNSCC risk (aORs 1.75 and 1.65, respectively).
  • Individuals with both homozygous polymorphisms had over a 2-fold increased HNSCC risk (aOR 2.23), with a notable elevation in HPV-positive oropharyngeal cancer (aOR 3.09).

Conclusions:

  • BRM promoter polymorphisms are significant susceptibility markers for HNSCC.
  • These polymorphisms may have clinical utility in HNSCC screening, prevention, and treatment strategies.

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