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Background <p>Women with germline pathogenic variants (GPV) in <i>BRCA1/2</i>, <i>PALB2</i>, or other high penetrance genes may consider risk reducing mastectomy (RRM) with or without reconstruction to reduce their risk of developing breast cancer. Few studies have characterized reconstructive trends in this patient population.</p> Methods <p>We conducted a retrospective cohort study of female patients with a confirmed GPV in a high penetrance breast cancer susceptibility gene who underwent RRM between 2003 and 2024. Clinicodemographic and surgical data were extracted from the electronic medical record. The Chi-squared test and Mantel-Haenszel test for trend were used to evaluate factors and temporal trends associated with reconstruction.</p> Results <p>Of 443 female GPV carriers who underwent RRM, 394 (88.9%) elected to undergo breast reconstruction. Factors significantly associated with reconstruction included younger age (<i>p</i> &lt; 0.001), premenopausal status (<i>p</i> &lt; 0.001), and more recent year of RRM (<i>p</i> = 0.04). In women undergoing reconstruction, the median age was 43 years (IQR 35–52) compared to 55 years (IQR 39–65) in those electing for no reconstruction (<i>p</i> &lt; 0.001). There was a significant trend towards increased use of reconstruction over the study period (85.2% prior to 2012 vs. 97.0% after 2022, <i>p</i> &lt; 0.01). In 375 carriers with reconstructive details available, implant-based reconstruction was the most common (94.1%), although autologous/flap based reconstructive procedures increased over time (2.3% of all reconstructive procedures prior to 2012 vs. 12.6% after 2022, <i>p</i> = 0.003). There was a trend towards decreasing use of tissue expanders over time (86.1% prior to 2012 vs. 26.3% after 2022), whereas direct-to-implant reconstruction (either single-staged or staged following reduction mastopexy) became the dominant reconstructive approach over the study period (11.6% prior to 2012 vs. 61.1% after 2022; <i>p</i> &lt; 0.001). Among 353 patients undergoing implant-based techniques, the use of prepectoral implants increased dramatically over the study period (0% prior to 2012 to 94.0% after 2022, <i>p</i> &lt; 0.001).</p> Conclusions <p>In <i>BRCA1</i>/2, <i>PALB2</i>, and other high penetrance GPV carriers undergoing RRM, the use of reconstruction increased from 85% prior to 2012 to 97% of all carriers in 2022. Implant-based techniques were the most commonly used, although autologous/flap-based reconstruction techniques gradual increased over time. Further research examining patient reported outcomes, recovery time, and the financial impact of different reconstructive approaches are warranted.</p>

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Trends in breast reconstruction for BRCA1/2, PALB2 and other high penetrance germline pathogenic variant carriers undergoing risk reducing mastectomy

  • 期刊论文

  • 发表日期：

    2026年4月28日

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  • Amel Melanson,
  • Marya Alsuhaibani,
  • Alex Viezel-Mathieu,
  • Tassos Dionisopoulos,
  • Mark Basik,
  • Jean Francois Boileau,
  • Karyne Martel,
  • Ipshita Prakash,
  • Sarkis Meterissian,
  • Joshua Vorstenbosch,
  • William D. Foulkes,
  • Stephanie M. Wong

摘要

Background

Women with germline pathogenic variants (GPV) in BRCA1/2, PALB2, or other high penetrance genes may consider risk reducing mastectomy (RRM) with or without reconstruction to reduce their risk of developing breast cancer. Few studies have characterized reconstructive trends in this patient population.

Methods

We conducted a retrospective cohort study of female patients with a confirmed GPV in a high penetrance breast cancer susceptibility gene who underwent RRM between 2003 and 2024. Clinicodemographic and surgical data were extracted from the electronic medical record. The Chi-squared test and Mantel-Haenszel test for trend were used to evaluate factors and temporal trends associated with reconstruction.

Results

Of 443 female GPV carriers who underwent RRM, 394 (88.9%) elected to undergo breast reconstruction. Factors significantly associated with reconstruction included younger age (p < 0.001), premenopausal status (p < 0.001), and more recent year of RRM (p = 0.04). In women undergoing reconstruction, the median age was 43 years (IQR 35–52) compared to 55 years (IQR 39–65) in those electing for no reconstruction (p < 0.001). There was a significant trend towards increased use of reconstruction over the study period (85.2% prior to 2012 vs. 97.0% after 2022, p < 0.01). In 375 carriers with reconstructive details available, implant-based reconstruction was the most common (94.1%), although autologous/flap based reconstructive procedures increased over time (2.3% of all reconstructive procedures prior to 2012 vs. 12.6% after 2022, p = 0.003). There was a trend towards decreasing use of tissue expanders over time (86.1% prior to 2012 vs. 26.3% after 2022), whereas direct-to-implant reconstruction (either single-staged or staged following reduction mastopexy) became the dominant reconstructive approach over the study period (11.6% prior to 2012 vs. 61.1% after 2022; p < 0.001). Among 353 patients undergoing implant-based techniques, the use of prepectoral implants increased dramatically over the study period (0% prior to 2012 to 94.0% after 2022, p < 0.001).

Conclusions

In BRCA1/2, PALB2, and other high penetrance GPV carriers undergoing RRM, the use of reconstruction increased from 85% prior to 2012 to 97% of all carriers in 2022. Implant-based techniques were the most commonly used, although autologous/flap-based reconstruction techniques gradual increased over time. Further research examining patient reported outcomes, recovery time, and the financial impact of different reconstructive approaches are warranted.