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.
","abstract_html":"<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>","abstract_has_math":false,"creators":["Nowlen, Carol","https://orcid.org/0000-0002-1684-9725
"],"institution":null,"degree_name":"Masters of Science (MS)","degree_level":"Thesis (MS)","degree_discipline":null,"degree_department":null,"school":null,"contributors":["Molly Daniels, MS, CGC","Funda Meric-Bernstam, MD","Keyur Patel, MD, PhD"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2019,"date_issued":"2019-05-01T07:00:00Z","date_published":"2019-05-01T07:00:00Z","updated_at":"2026-07-24T05:48:47Z","subjects":["cancer","genetics","genetic testing","BRCA1","BRCA2","tumor-only testing","tumor molecular profiling","hereditary cancer","Medicine and Health Sciences"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://digitalcommons.library.tmc.edu/utgsbs_dissertations/937","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Molly Daniels, MS, CGC","Funda Meric-Bernstam, MD","Keyur Patel, MD, PhD"]},{"key":"dc:creator","label":"Author","values":["Nowlen, Carol","https://orcid.org/0000-0002-1684-9725
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"]},{"key":"dc:title","label":"Title","values":["Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling"]}]}],"canonical_facts":{"dc:contributor":["Molly Daniels, MS, CGC","Funda Meric-Bernstam, MD","Keyur Patel, MD, PhD"],"dc:creator":["Nowlen, Carol","https://orcid.org/0000-0002-1684-9725
"],"dc:date.available":["2020-05-05T07:00:00Z"],"dc:description.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.
"],"dc:identifier":["https://digitalcommons.library.tmc.edu/utgsbs_dissertations/937"],"dc:subject":["cancer","genetics","genetic testing","BRCA1","BRCA2","tumor-only testing","tumor molecular profiling","hereditary cancer","Medicine and Health Sciences"],"dc:title":["Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling"],"thesis:degree_level":["Thesis (MS)"],"thesis:degree_name":["Masters of Science (MS)"]},"updated_at":"2026-07-24T05:48:47Z"}