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<p>This study evaluates the uptake of bilateral risk-reducing mastectomy (BRRM) among unaffected BRCA1/2 mutation carriers in the metropolitan area of Bologna, Italy, between 2012 and 2024. Pathogenic BRCA variants, which confer a markedly increased lifetime risk of breast cancer, are managed through preventive strategies such as BRRM, which can reduce risk by more than 90%.</p><p>Among 178 women (89 BRCA1 and 89 BRCA2 carriers), 22.5% elected to undergo BRRM, with a significantly higher uptake among BRCA1 carriers (33.7%) compared with BRCA2 carriers (11.2%). Most procedures were performed more than two years after genetic testing, and the most common age at surgery was 41–45 years.</p><p>Furthermore, the results demonstrate a progressive increase over time in both genetic testing and BRRM uptake, in line with international trends. However, the observed rates remain lower than those reported in Northern Europe. Despite limitations related to cohort size and data completeness, this study provides updated evidence on decision-making regarding BRRM among Italian women at hereditary risk of breast cancer.</p>

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Bilateral risk reducing mastectomy uptake trends in healthy BRCA1/2 mutation carriers of an European City, the brachoice study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月28日

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  • Marco Bernini,
  • Sofia Innocenti,
  • Daniela Turchetti,
  • Sara Miccoli,
  • Giovanni Innella,
  • Alice Pellegrini,
  • Marica Melina,
  • Simone Zanotti,
  • Maria Cristina Cucchi,
  • Valentina Galluzzo,
  • Maria Elisa Lozano Miralles,
  • Fabrizio Ventimiglia,
  • Daniela Cocchi,
  • Margherita Serra

摘要

This study evaluates the uptake of bilateral risk-reducing mastectomy (BRRM) among unaffected BRCA1/2 mutation carriers in the metropolitan area of Bologna, Italy, between 2012 and 2024. Pathogenic BRCA variants, which confer a markedly increased lifetime risk of breast cancer, are managed through preventive strategies such as BRRM, which can reduce risk by more than 90%.

Among 178 women (89 BRCA1 and 89 BRCA2 carriers), 22.5% elected to undergo BRRM, with a significantly higher uptake among BRCA1 carriers (33.7%) compared with BRCA2 carriers (11.2%). Most procedures were performed more than two years after genetic testing, and the most common age at surgery was 41–45 years.

Furthermore, the results demonstrate a progressive increase over time in both genetic testing and BRRM uptake, in line with international trends. However, the observed rates remain lower than those reported in Northern Europe. Despite limitations related to cohort size and data completeness, this study provides updated evidence on decision-making regarding BRRM among Italian women at hereditary risk of breast cancer.