Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center

ConclusionsAmong AJ patients found to have a pathogenic mutation on genetic assessment, approximately 22.8% had a mutation that would be missed with BRCA1/2 AJ founder mutation testing. Comprehensive multigene panel sequencing can provide clinically relevant genetic information for AJ patients and should be considered for genetic assessment in this population.

Source: Cancer - November 27, 2018 Category: Cancer & Oncology Authors: Melissa K. Frey, Rohini V. Kopparam, Zhen Ni Zhou, Jessica C. Fields, Ama Buskwofie, Ann D. Carlson, Thomas Caputo, Kevin Holcomb, Eloise Chapman ‐Davis Tags: Original Article Source Type: research