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Predictive testing for BRCA1 and 2 mutations: a male contribution.

P A Daly1, C Nolan, A Green

  • 1Department of Haematology and Oncology, St James's Hospital and Trinity College, Dublin, Ireland. pdaly@stjames.ie

Annals of Oncology : Official Journal of the European Society for Medical Oncology
|March 22, 2003
PubMed
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Men undergoing genetic testing for BRCA mutations showed understanding of its importance, though some experienced adverse reactions. Further study is needed to address these psychological impacts and improve participation.

Area of Science:

  • Genetics
  • Oncology
  • Psychology

Background:

  • Management strategies for women with BRCA1/2 mutations are established.
  • Predictive genetic testing is common for women, but less so for men.
  • Implications of BRCA mutations for men require further clarification.

Purpose of the Study:

  • To investigate the motivation, reaction, and outcomes of predictive genetic testing in men.
  • To understand the psychological impact and decision-making processes in male BRCA carriers.
  • To assess the effectiveness of pre- and post-test counseling in male genetic testing.

Main Methods:

  • Twenty-six men from 10 families underwent predictive genetic testing for known BRCA mutations.
  • Participants received pre- and post-test counseling.

Related Experiment Videos

  • DNA analysis was performed using standard procedures.

    • Main Results:

    • Eighteen men tested positive, and eight tested negative for BRCA mutations.
    • Four men experienced adverse psychological reactions; three withheld results from family members.
    • Paternal lineage transmission was identified, and phenocopies were observed in men with prostate cancer.

    Conclusions:

    • Complex themes in genetic testing are confirmed and expanded in men.
    • Men demonstrate an understanding of the significance of participating in genetic testing.
    • Further research is needed on methods to mitigate adverse psychological reactions and optimize the genetic testing process for men.