Germline ATBF1 mutations and prostate cancer risk

Junyan Xu1, Jurga Sauvageot, Charles M Ewing

  • 1Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

The Prostate
|April 26, 2006
PubMed
Abstract

Insights

The germline 3381del allele of the ATBF1 gene may increase prostate cancer risk. This finding suggests ATBF1 may be a prostate tumor suppressor gene, influencing susceptibility in sporadic cases.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • ATBF1 is a candidate prostate tumor suppressor gene.
  • Two recurrent somatic mutations, Poly(T)n and 3381del, impact ATBF1 function and expression in prostate cancer.
  • These mutations were observed in multiple prostate cancer samples.

Purpose of the Study:

  • To investigate the germline origin and prostate cancer risk associated with two recurrent ATBF1 sequence variants.
  • To determine if carriers of these variants have an increased risk for prostate cancer.

Main Methods:

  • Assayed two recurrent sequence variants (Poly(T)n and 3381del) in germline DNA from prostate cancer cases and controls.
  • Genotyped germline DNA samples to assess the association with prostate cancer risk.

Main Results:

  • Poly(T)n variants were found in both normal and tumor DNA, confirming germline origin.
  • The 3381del variant was significantly associated with increased prostate cancer risk in sporadic cases (P = 0.03).
  • No significant association was found between 3381del and prostate cancer risk in hereditary cases.

Conclusions:

  • The germline 3381del allele of ATBF1 may influence prostate cancer susceptibility.
  • ATBF1 germline variants could play a role in the development of prostate cancer.

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