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Updated: Dec 27, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up.

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Genetic testing for BRCA1/2 mutations in men, including those with male breast cancer (MBC), did not increase psychological distress. This finding is crucial for understanding the impact of genetic vulnerability in male cancer patients and high-risk individuals.

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Area of Science:

  • Oncology
  • Genetics
  • Psychology

Background:

  • Male breast cancer (MBC) is rare, with genetic vulnerability as a key risk factor.
  • Care for MBC often mirrors female patient protocols, overlooking unique male experiences and concerns regarding genetic mutation carrier status.
  • Limited research exists on the psychological impact of BRCA1/2 testing in men, particularly in elderly populations.

Purpose of the Study:

  • To assess the psychological impact of BRCA1/2 genetic testing in male subjects, including MBC patients and high-risk unaffected individuals.
  • To evaluate self-reported anxiety and depression levels following genetic testing in this specific male cohort.

Main Methods:

  • Self-reported anxiety and depression levels were assessed using the Hospital Anxiety and Depression Scale (HADS).
  • The study included 26 male subjects: 7 MBC patients and 19 high-risk unaffected individuals.
  • Participants were categorized based on their BRCA1/2 test results (positive or negative).

Main Results:

  • Among 17 unaffected men tested, 7 (41%) had a positive BRCA1/2 result, and 10 (59%) had a negative result.
  • One of 9 MBC patients tested received a positive result.
  • No significant differences in anxiety or depression scores were found between individuals with positive (T+) and negative (T-) test results in the short term.

Conclusions:

  • BRCA1/2 genetic testing in this cohort of men was not associated with increased psychological distress.
  • These findings suggest that genetic testing can be safely offered to men, including those with MBC and high-risk individuals, without significant short-term psychological burden.