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. 2021 Jan 11:10:574813.
doi: 10.3389/fonc.2020.574813. eCollection 2020.

Insights Into the Impacts of BRCA Mutations on Clinicopathology and Management of Early-Onset Triple-Negative Breast Cancer

Fugui Ye  1 , Min He  1 , Liang Huang  1 , Guantian Lang  1   2 , Xin Hu  1 , Zhimin Shao  1   3 , Genhong Di  1 , Ayong Cao  1
Affiliations

Insights Into the Impacts of BRCA Mutations on Clinicopathology and Management of Early-Onset Triple-Negative Breast Cancer

Fugui Ye et al. Front Oncol. .

Abstract

Background: Little is known regarding the clinicopathologic characteristics, oncologic outcomes, and treatment strategies that could be ascribed to BRCA mutation in early-onset triple-negative breast cancer (eTNBC).

Methods: eTNBC patients who underwent BRCA genetic testing were derived from our clinical database between 2012 and 2018. Differences in clinical features and pathologic characteristics were examined in groups divided by BRCA mutation status, and the contribution of germline mutations in conjunction with treatment modalities to survival outcomes was determined.

Results: Of the 355 qualifying eTNBC patients, 67 (18.87%) were BRCA mutated and 288 (81.13%) were BRCA wild. Overall, median age at diagnosis was 34 years (range, 24-40 years) in the BRCA mutated subgroup and 35 years (range, 21-40 years) in BRCA wild. The majority of clinicopathologic parameters were parallel; however, tumor size (P = 0.07) and nuclear grade (P =0.08) tend to be more aggressive in the BRCA mutated subgroup. Compared with BRCA wild patients, BRCA mutated patients had a higher likelihood of receiving anthracyclines and taxane-based combination chemotherapy (P = 0.04) and tend to be lower tumor burden (P =0.01). After approximately 5-year median follow-up, the overall survival (OS) (P = 0.021) and breast cancer-specific survival (BCSS) (P = 0.004) in BRCA mutated patients were superior to those in their BRCA wild counterparts. Intriguingly, the clinical outcomes were comparable in patients with breast conserving surgery (BCS) regardless of BRCA mutations and in patients with BRCA mutations in spite of surgical schedules.

Conclusions: These results suggest that eTNBC patients with BRCA mutations are prone to better OS and BCSS, which might be largely attributed to more benefit from anthracyclines and taxane-based chemotherapy. The BCS procedure could be a safe alternative surgical option for eTNBC patients with BRCA mutations. Future studies with substantial numbers of participants are urgently needed to validate whether BRCA mutation eTNBC patients are more sensitive to chemotherapy.

Keywords: breast cancer; breast cancer type 1 susceptibility protein; early-onset; mutation; triple-negative.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Oncologic outcomes for all patients enrolled in the study cohort by BRCA mutation status. (A) Kaplan–Meier estimates of OS. (B) Kaplan–Meier estimates of DFS. (C) Kaplan–Meier estimates of BCSS.
Figure 2
Figure 2
Oncologic outcomes for patients who underwent BCS by BRCA mutation status. (A) Kaplan–Meier estimates of OS. (B) Kaplan–Meier estimates of DFS. (C) Kaplan–Meier estimates of BCSS.
Figure 3
Figure 3
Oncologic outcomes for patients with BRCA positivity by surgical schedules. (A) Kaplan–Meier estimates of OS. (B) Kaplan–Meier estimates of DFS.
See this image and copyright information in PMC

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References

    1. Gabriel CA, Domchek SM. Breast cancer in young women. Breast Cancer Res (2010) 12(5):212. 10.1186/bcr2647 - DOI - PMC - PubMed
    1. Lee H-B, Han W. Unique features of young age breast cancer and its management. J Breast Cancer (2014) 17(4):301–7. 10.4048/jbc.2014.17.4.301 - DOI - PMC - PubMed
    1. Anastasiadi Z, Lianos GD, Ignatiadou E, Harissis HV, Mitsis M. Breast cancer in young women: an overview. Updates Surg (2017) 69(3):313–7. 10.1007/s13304-017-0424-1 - DOI - PubMed
    1. Claus EB, Risch NJ, Thompson WD. Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol (1990) 131(6):961–72. 10.1093/oxfordjournals.aje.a115616 - DOI - PubMed
    1. Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet (1997) 60(5):1013–20. - PMC - PubMed

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