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

Tal Hadar; Pnina Mor; Gefen Amit; Sari Lieberman; David Gekhtman; Rachel Rabinovitch; Ephrat Levy-Lahad

doi:10.1001/jamaoncol.2020.2059

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

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

Authors

Tal Hadar¹, Pnina Mor^{2

3}, Gefen Amit⁴, Sari Lieberman³, David Gekhtman⁵, Rachel Rabinovitch⁶, Ephrat Levy-Lahad^{3

4}

Affiliations

¹ Breast Surgery Unit, Department of Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.
² Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
³ Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
⁴ Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
⁵ Breast Imaging Unit, Department of Imaging, Shaare Zedek Medical Center, Jerusalem, Israel.
⁶ Departments of Radiation Oncology and Medicine, University of Colorado, Anschutz Medical Campus, Aurora.

Abstract

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

MeSH terms

BRCA1 Protein / genetics*
BRCA2 Protein / genetics*
Breast Neoplasms / epidemiology
Breast Neoplasms / genetics*
Breast Neoplasms / pathology
Disease-Free Survival
Female
Genetic Predisposition to Disease*
Genetic Variation / genetics
Germ-Line Mutation / genetics
Humans
Kaplan-Meier Estimate
Middle Aged

Substances

BRCA1 Protein
BRCA2 Protein