Division of Breast Surgery, Department of Surgery, Samsung Medical Center Cancer Hospital, Sungkyunkwan University School of Medicine, 5th Floor Breast-Endocrine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.
Department of Surgery, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, South Korea.
Sci Rep. 2021 Jul 20;11(1):14747. doi: 10.1038/s41598-021-94195-4.
Decision to undergo risk-reducing mastectomy (RRM) needs to consider several factors, including patient's preference, surgeon's preference, family history, and genetic predisposition. The aim of this study was to examine whether preoperative diagnosis of BRCA1/2 mutation status could influence surgical decision-making in newly diagnosed breast cancer patients. We retrospectively reviewed ipsilateral breast cancer patients with BRCA1/2 mutation who underwent primary surgery between January 2008 and November 2019 at a single institution in Korea. Of 344 eligible patients, 140 (40.7%) patients were aware of their mutation status 'prior to surgery', while 204 (59.3%) did not. Contralateral RRM rate was significantly higher in the group with BRCA1/2 mutation status identified 'prior to surgery' compared to the group with mutation status identified 'after surgery' [45.0% (63/140) vs. 2.0% (4/204)] (p < 0.001). Reduced turnaround time of BRCA1/2 testing (p < 0.001) and the use of neoadjuvant chemotherapy (p < 0.001) were associated with BRCA1/2 mutation status identified prior to surgery. Although not statistically significant, higher incidence of developing contralateral breast cancer for BRCA1/2 mutation carriers who underwent ipsilateral surgery-only compared to those who underwent contralateral RRM was observed [12.1% (95% CI: 7.7-17.7%)] (p = 0.1618). Preoperative diagnosis of BRCA1/2 mutation could impact surgical decision-making for breast cancer patients to undergo risk-reducing surgery at the time of initial surgery.
接受降低风险的乳房切除术(RRM)的决定需要考虑几个因素,包括患者的偏好、外科医生的偏好、家族史和遗传倾向。本研究的目的是检验术前诊断 BRCA1/2 突变状态是否会影响新诊断乳腺癌患者的手术决策。我们回顾性分析了韩国一家机构在 2008 年 1 月至 2019 年 11 月期间接受原发性手术的 BRCA1/2 突变的同侧乳腺癌患者。在 344 名符合条件的患者中,140 名(40.7%)患者在术前“知晓”其突变状态,而 204 名(59.3%)患者在术前“不知晓”其突变状态。在术前“知晓”BRCA1/2 突变状态的患者中,行对侧 RRM 的比例明显高于术后“知晓”BRCA1/2 突变状态的患者[45.0%(63/140)比 2.0%(4/204)](p<0.001)。BRCA1/2 检测的周转时间缩短(p<0.001)和新辅助化疗的使用(p<0.001)与术前“知晓”BRCA1/2 突变状态有关。尽管没有统计学意义,但与接受对侧 RRM 的患者相比,仅接受同侧手术的 BRCA1/2 突变携带者发生对侧乳腺癌的发生率更高[12.1%(95%CI:7.7-17.7%)](p=0.1618)。BRCA1/2 突变的术前诊断可能会影响乳腺癌患者在初始手术时进行降低风险手术的决策。