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. 2020 Sep 1;6(9):1460-1463.
doi: 10.1001/jamaoncol.2020.2059.

Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer

Tal Hadar  1 , Pnina Mor  2   3 , Gefen Amit  4 , Sari Lieberman  3 , David Gekhtman  5 , Rachel Rabinovitch  6 , Ephrat Levy-Lahad  3   4
Affiliations

Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer

Tal Hadar et al. JAMA Oncol. .

Abstract

This retrospective cohort study of women with breast cancer evaluates the association of presymptomatic awareness of germline pathogenic BRCA variants and treatment outcomes.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Lieberman reported personal fees from AstraZeneca outside the submitted work. Dr Levy-Lahad reported grants from the Breast Cancer Research Foundation and grants from the Israel Cancer Association during the conduct of the study and personal fees from AstraZeneca outside the submitted work. No other disclosures were reported.

Figures

Figure.
Figure.. Overall Survival in Carriers of BRCA Pathogenic Variants Diagnosed With Breast Cancer Who Were Aware of Their BRCA Status Before vs After Cancer Diagnosis
Kaplan-Meier curves of overall survival in BRCA1/BRCA2 carriers diagnosed with breast cancer. PreDx-BRCA indicates carriers who were aware of BRCA status before their breast cancer diagnosis; postDx-BRCA, carriers who became aware of their BRCA status only after their breast cancer diagnosis. Vertical hatches represent censored individuals. Overall survival was higher in preDx-BRCA vs PostDx-BRCA carriers: 5-year survival rates were 94% (SE 4%) in pre-Dx-BRCA carriers and 78% (SE 5%) in postDx-BRCA carriers (P = .03). The hazard ratio for overall mortality for BRCA-preDx carriers vs BRCA-postDx carriers, controlled for calendar year at diagnosis, was 0.20 (95% CI, 0.04-0.93) (P = .04). Controlled for age, SI (socioeconomic index), family history, calendar year at diagnosis and variant gene, the hazard ratio was 0.16 (95% CI, 0.02-1.4; P = .10). Log-rank test was used to examine statistical differences in survival curves. Hazard ratio was calculated using Cox regression.
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