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Androgen receptor gene alterations in Finnish male breast cancer

Kirsi Syrjäkoski1, Eija-R Hyytinen, Tuula Kuukasjärvi

  • 1Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere, Tampere University Hospital, Tampere, Finland.

Breast Cancer Research and Treatment
|February 27, 2003
PubMed

Insights

This study found no significant link between androgen receptor (AR) gene mutations or repeat lengths and male breast cancer (MBC) risk. Comprehensive screening in Finnish MBC patients suggests AR is not a major predisposing factor.

Area of Science:

  • Oncology
  • Genetics
  • Endocrinology

Background:

  • Androgen receptor (AR) gene mutations are hypothesized to increase male breast cancer (MBC) susceptibility.
  • Previous studies on MBC patients had limitations, including small sample sizes and incomplete screening of the AR gene's coding region, potentially missing relevant alterations.

Purpose of the Study:

  • To comprehensively screen the entire coding region of the AR gene for mutations in male breast cancer patients.
  • To investigate the association between AR CAG and GGC repeat lengths and MBC risk.
  • To evaluate the role of the AR Arg726Leu mutation, a known prostate cancer predisposing variant, in male breast cancer.

Main Methods:

  • Comprehensive mutation screening of the entire AR gene coding region in 32 Finnish MBC patients.
  • Analysis of AR CAG and GGC repeat lengths in the same cohort.
  • Testing for the AR Arg726Leu germ-line mutation in a larger cohort of 117 MBC patients.

Main Results:

  • No germ-line mutations in the AR gene were detected in the screened MBC patients.
  • AR CAG and GGC repeat lengths in MBC cases were comparable to those found in the general Scandinavian population.
  • The AR Arg726Leu mutation was not found to be associated with male breast cancer.

Conclusions:

  • The androgen receptor (AR) gene does not appear to be a significant predisposing factor for male breast cancer.
  • The CAG and GGC repeat lengths of the AR gene are unlikely to be substantial risk factors for MBC.
  • Further research may explore other genetic or environmental factors contributing to male breast cancer development.

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