Advances in Anatomic PathologyHereditary Breast and Ovarian Cancer Syndrome: Moving Beyond BRCA1 and BRCA2Hoang, Lien N. MD; Gilks, Blake C. MD, FRCPCAuthor Information Department of Pathology and Laboratory Medicine, Vancouver General Hospital and University of British Columbia, Vancouver, BC, Canada The authors have no funding or conflicts of interest to disclose. Reprints: Blake Gilks, MD, FRCPC, Department of Pathology and Laboratory Medicine, Vancouver General Hospital and University of British Columbia, Room 1503, 1st Floor JPPN, 855 West 12th Avenue, Vancouver, BC, Canada, BC V5Z 1M9 (e-mail: [email protected]). All figures can be viewed online in color at www.anatomicpathology.com Advances In Anatomic Pathology: March 2018 - Volume 25 - Issue 2 - p 85-95 doi: 10.1097/PAP.0000000000000177 Buy Metrics Abstract The recent implementation of next generation sequencing and multigene platforms has expanded the spectrum of hereditary breast and ovarian cancer syndrome, beyond the traditional genes BRCA1 and BRCA2. A large number of other moderate penetrance genes have now been uncovered, which also play critical roles in repairing double stranded DNA breaks through the homologous recombination pathway. This review discusses the landmark discoveries of BRCA1 and BRCA2, the homologous repair pathway and new genes discovered in hereditary breast and ovarian cancer syndrome, as well as their clinicopathologic significance and implications for genetic testing. It also highlights the new role of PARP inhibitors in the context of synthetic lethality and prophylactic surgical options. Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.