J Korean Med Sci.  2021 Oct;36(38):e241. 10.3346/jkms.2021.36.e241.

Disparities between Uptake of Germline BRCA1/2 Gene Tests and Implementation of Post-test Management Strategies in Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients

• Hur YM
• Mun J
• Kim MK
• Lee M
• Kim YH
• Kim SC

• KMID: 2520777
• DOI: http://doi.org/10.3346/jkms.2021.36.e241

Abstract

Background
To assess the rate of germline BRCA gene tests in epithelial ovarian cancer (EOC) patients and uptake of post-test risk management strategies in BRCA1/2-mutated patients.
Methods
Institutional databases were searched to identify patients who were diagnosed with epithelial ovarian, fallopian tube, or primary peritoneal cancer (EOC) between 2009 and 2019 in two academic hospitals. Retrospective review on medical records was performed to collect clinico-pathologic variables, including performance of germline BRCA gene test and its results, as well as conduct of breast cancer screening tests and cascade testing. If annual mammography +/− breast ultrasonography was performed, it was considered that regular breast cancer surveillance was done.
Results
A total of 840 women with EOC were identified during the study period. Of these, 454 patients (54.0%) received BRCA gene testing and 106 patients (106/454, 23.3%) were positive for BRCA1/2 mutations. The rate of BRCA tests has markedly increased from 25.8% in 2009-2012 to 62.7% in 2017-2019. Among the 93 patients with BRCA1/2 mutation without previous personal breast cancer history, 20 patients (21.5%) received annual mammography with or without breast ultrasonography for regular surveillance. Among the 106 BRCA1/2-mutated EOC patients, cascade testing on family members was performed only in 13 patients (12.3%).
Conclusion
Although BRCA1/2 gene tests have been substantially expanded, the uptake of post-test risk management strategies, including breast cancer screening for BRCA1/2-mutated patients and cascade testing for family members, has remained low. Strategies to increase its uptake and education about the importance of post-test risk managements are needed.

Keyword

BRCA1; BRCA2; Epithelial Ovarian Cancer; Breast Cancer Screening; Cascade Test

Figure

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  Fig. 1 Annual trend of BRCA gene testing prescription (♦), BRCA1/2 mutation carriers (▪), and breast cancer surveillance with mammography in EOC patients as a whole (▴) and EOC patients with BRCA mutations (x).EOC = epithelial ovarian cancer, MMG = mammography.

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