Author ORCID Identifier
https://orcid.org/0000-0002-1684-9725
Date of Graduation
5-2019
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
Molly Daniels, MS, CGC
Committee Member
Funda Meric-Bernstam, MD
Committee Member
Keyur Patel, MD, PhD
Committee Member
Jacqueline Harkenrider, MS, CGC
Committee Member
Nadine Rayes, MS, CGC
Abstract
Tumor molecular profiling is often performed in order to direct cancer treatment options. However, because many of the genes analyzed on tumor molecular profiling overlap with genes known to be associated in the germline with hereditary cancer predisposition syndromes, tumor molecular profiling can unknowingly uncover germline predisposition to cancer development. In this study, we determined the number of patients with pathogenic variants (PVs) identified in BRCA1 and BRCA2 (BRCA1/2) via tumor molecular profiling at The University of Texas MD Anderson Cancer Center, then performed a retrospective chart review to determine the proportion of such patients that received germline testing and had germline PVs identified. We found that 3.78% (13/2,990; 95% CI 3.09-4.46%) of tumor-only testing reports identified PVs in BRCA1/2, 38.94% (44/113; 95% CI 29.95-47.93%) of patients with pathogenic variants in BRCA1/2 had germline testing, and 63.64% (28/44; 95% CI 49.42-77.85%) of patients with germline testing had germline PVs in BRCA1/2. Patients with cancer diagnoses related to BRCA1/2 were more likely to have had germline testing (72.73% of patients with testing had HBOC-related tumors vs. 36.23% of those without testing, p BRCA1/2 mutations, particularly in non-BRCA1/2 associated cancer types.
Keywords
cancer, genetics, genetic testing, BRCA1, BRCA2, tumor-only testing, tumor molecular profiling, hereditary cancer