npj Precision Oncology (Apr 2024)

Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations

  • Woong Ki Park,
  • Soo Yeon Chung,
  • You Jin Jung,
  • Changhee Ha,
  • Jong-Won Kim,
  • Seok Jin Nam,
  • Seok Won Kim,
  • Jonghan Yu,
  • Byung Joo Chae,
  • Jeong Eon Lee,
  • Sung-Won Kim,
  • Jai Min Ryu,
  • Korean Hereditary Breast Cancer Study Group

DOI
https://doi.org/10.1038/s41698-024-00559-0
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 7

Abstract

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Abstract Triple-negative breast cancer (TNBC) patients are more likely to have BRCA1/2 mutations, with a prevalence rate of about 10–20%. Although several studies have analyzed the oncologic outcomes between BRCA1/2 carriers and non-carriers, the impact on breast cancer patients is still unclear. A retrospective review was performed to determine the long-term outcomes of TNBC patients, focusing on the impact of BRCA1/2 mutations. A total of 953 TNBC patients who underwent primary breast cancer surgery from June 2008 to January 2016 were included. We examined long-term outcomes, including contralateral breast cancer (CBC) incidence, recurrence patterns, and survival rates over a median follow-up of 80.9 months (range 3–152 months). 122 patients (12.8%) had BRCA1/2 mutations. BRCA1/2 mutation carriers were significantly younger at diagnosis and more likely to have a family history of breast/ovarian cancer. CBC incidence at 60, 120, and 150 months was significantly higher in BRCA1/2 mutation carriers compared to non-carriers (P = 0.0250, 0.0063, and 0.0184, respectively). However, there were no significant differences in disease-free survival, overall survival, breast cancer-specific survival, or distant-metastasis-free survival between the two groups. BRCA1/2 mutation status was a significant risk factor for CBC (HR = 6.242, P < 0.0001). Interestingly, among 29 patients with CBC recurrence, 24 patients (82.8%) had recurring TNBC subtype and among the CBC recurrence patients, 19 patients (65.5%) resumed chemotherapy. In the TNBC subtype, appropriate genetic testing and counseling are pivotal for surgical decisions like risk-reducing mastectomy (RRM). Furthermore, long-term surveillance is warranted, especially in BRCA1/2 carriers who did not receive RRM.