Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling

<p>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 <em>BRCA1 </em>and <em>BRCA2 </em>(<em>BRCA1/2</em>) 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 <em>BRCA1/2</em>, 38.94% (44/113; 95% CI 29.95-47.93%) of patients with pathogenic variants in <em>BRCA1/2</em> had germline testing, and 63.64% (28/44; 95% CI 49.42-77.85%) of patients with germline testing had germline PVs in <em>BRCA1/2.</em> Patients with cancer diagnoses related to <em>BRCA1/2</em> 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-<em>BRCA1/2</em> associated cancer types.</p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2019

Authors dc:creator

• Nowlen, Carol
• <p>https://orcid.org/0000-0002-1684-9725</p>

Contributors dc:contributor

• Molly Daniels, MS, CGC
• Funda Meric-Bernstam, MD
• Keyur Patel, MD, PhD

• cancer
• genetics
• genetic testing
• BRCA1
• BRCA2
• tumor-only testing
• tumor molecular profiling
• hereditary cancer
• Medicine and Health Sciences

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/937

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-1983