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

Available for download on Tuesday, May 05, 2020

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