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Background <p>While several studies have reported on factors influencing the uptake of risk-reducing mastectomy (RRM) in patients with germline pathogenic variants (gPV) in <i>BRCA1/2</i>, there remains a paucity of data regarding variations in uptake by ethnicity.</p> Methods <p>We conducted a retrospective cohort study of unaffected female patients with a confirmed gPV in <i>BRCA1</i>/2 or <i>PALB2</i> between March 2000 to March 2023 at two academic institutions in Montreal, Canada. Ethnicity was self-reported as: White/European, Black/African/Caribbean, Asian/Southeast Asian, Hispanic/South/Central American, Middle Eastern/North African, Indigenous/First Nations, or mixed. Fisher’s exact test and multivariable logistic regression were used to evaluate predictors of RRM uptake.</p> Results <p>Of 476 unaffected female carriers, 205 (43.1%) had a gPV in <i>BRCA1</i>, 250 (52.5%) in <i>BRCA2</i>, and 21 (4.4%) in <i>PALB2</i>. The median age at genetic testing was 37 years (interquartile range [IQR], 29–47) and 365 (76.7%) patients were of White ethnicity. At a median follow-up of 49 months (IQR, 17–87), 182 (38.2%) women underwent RRM. Univariate analysis showed highest RRM uptake in Hispanic/South/Central American carriers (58.8%) and White carriers (40.3%) and lowest uptake in Black/African/Caribbean carriers (11.1%; <i>p</i> = 0.047). In adjusted analyses, ethnicity did not remain independently associated with RRM (<i>p</i> = 0.21), although age and family history of ovarian cancer did.</p> Conclusions <p>In this study of unaffected <i>BRCA1/2</i> and <i>PALB2</i> carriers, RRM uptake was lowest among Black/African/Caribbean carriers. However, ethnicity was not significantly associated with uptake of RRM in adjusted analyses. Further studies are needed to understand disparities in risk-reduction uptake and the complex decision-making process.</p>

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Impact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada

  • 期刊论文

  • 发表日期：

    2026年3月11日

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  • Sarah Mashal,
  • Amel Melanson,
  • Carla Apostolova,
  • Amina Ferroum,
  • Victor Villareal-Corpuz,
  • Sarkis Meterissian,
  • Karyne Martel,
  • Jean-François Boileau,
  • Mark Basik,
  • William Foulkes,
  • Stephanie M. Wong,
  • Ipshita Prakash

摘要

Background

While several studies have reported on factors influencing the uptake of risk-reducing mastectomy (RRM) in patients with germline pathogenic variants (gPV) in BRCA1/2, there remains a paucity of data regarding variations in uptake by ethnicity.

Methods

We conducted a retrospective cohort study of unaffected female patients with a confirmed gPV in BRCA1/2 or PALB2 between March 2000 to March 2023 at two academic institutions in Montreal, Canada. Ethnicity was self-reported as: White/European, Black/African/Caribbean, Asian/Southeast Asian, Hispanic/South/Central American, Middle Eastern/North African, Indigenous/First Nations, or mixed. Fisher’s exact test and multivariable logistic regression were used to evaluate predictors of RRM uptake.

Results

Of 476 unaffected female carriers, 205 (43.1%) had a gPV in BRCA1, 250 (52.5%) in BRCA2, and 21 (4.4%) in PALB2. The median age at genetic testing was 37 years (interquartile range [IQR], 29–47) and 365 (76.7%) patients were of White ethnicity. At a median follow-up of 49 months (IQR, 17–87), 182 (38.2%) women underwent RRM. Univariate analysis showed highest RRM uptake in Hispanic/South/Central American carriers (58.8%) and White carriers (40.3%) and lowest uptake in Black/African/Caribbean carriers (11.1%; p = 0.047). In adjusted analyses, ethnicity did not remain independently associated with RRM (p = 0.21), although age and family history of ovarian cancer did.

Conclusions

In this study of unaffected BRCA1/2 and PALB2 carriers, RRM uptake was lowest among Black/African/Caribbean carriers. However, ethnicity was not significantly associated with uptake of RRM in adjusted analyses. Further studies are needed to understand disparities in risk-reduction uptake and the complex decision-making process.