Preoperative diagnosis of BRCA1/2 mutation impacts decision-making for risk-reducing mastectomy in breast cancer patients

Jinsun Woo,Byung Noe Bae,Seok Jin Nam,Jonghan Yu,Jai Min Ryu,Inseok Park,Geumhee Gwak,Byung Joo Chae,Seok Won Kim,Jeong Eon Lee,Se Kyung Lee

doi:10.1038/s41598-021-94195-4

Abstract

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.

Highlights

Decision to undergo risk-reducing mastectomy (RRM) needs to consider several factors, including patient’s preference, surgeon’s preference, family history, and genetic predisposition
Among 3950 breast cancer patients who were tested for BRCA1/2 mutation between January 2008 and November 2019 in Samsung Medical Center, 486 patients were BRCA1/2 mutation carriers
Our study demonstrates that undergoing neoadjuvant chemotherapy has great odds of gaining knowledge of BRCA1/2 mutation status prior to surgery

Summary

Introduction

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. 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. BRCA1/2 mutation carriers who have developed breast cancer have a significant higher risk for ipsilateral breast recurrence with a median follow-up ≥ 7 years compared to non-carriers[4]. Decision to undergo RRM needs to consider several factors such as patient’s preference, surgeon’s preference, subtype of breast cancer, clinical stage, family history, and genetic predisposition[11,12,13] In this current study, we investigated whether the timing of identification of BRCA1/2 mutation might affect surgical decision making. We analyzed oncologic outcomes of BRCA1/2 mutation carriers with breast cancer according to types of surgery

Objectives

Methods

Results

Discussion

Conclusion