Genetic Testing Uptake and Yield in Patients with Male Breast Cancer

<p><strong>PURPOSE:</strong> Male breast cancer (MBC) risk is significantly elevated by germline predisposition, most commonly in <em>BRCA1</em> and <em>BRCA2</em>. Despite established guidelines recommending germline testing for all patients with MBC, there is wide variability in the reported prevalence of germline pathogenic variants (gPV) in this population, and the risk for MBC in moderate-risk breast cancer genes remains unclear. Additionally, the variables of age at diagnosis, race, and ethnicity in relation to test uptake and yield of gPV have primarily been investigated in mixed breast cancer cohorts. Therefore, this study aims to describe the prevalence of gPV in hereditary breast cancer risk genes (HBCRG): <em>ATM</em>, <em>BARD1</em>, <em>BRCA1</em>, <em>BRCA2</em>, <em>CDH1</em>, <em>CHEK2</em>, <em>NF1</em>, <em>PALB2</em>, <em>PTEN</em>, <em>RAD51C</em>, <em>RAD51D</em>, <em>STK11</em>, and <em>TP53</em>, and compare genetic testing uptake and yield of gPV in the clinically actionable genes for MBC: <em>BRCA1</em>, <em>BRCA2</em>, and <em>PALB2</em>, by age at diagnosis, race, and ethnicity, in a MBC cohort.</p> <p><strong>METHODS:</strong> A retrospective chart review was conducted for 423 MBC patients to collect demographic, diagnostic, and genetic testing outcomes. Kruskal-Wallis, chi-square, and binary Firth-type logistic regression were run with significance set at <em>p</em> < 0.05.</p> <p><strong>RESULTS:</strong> Genetic testing uptake was 76.1% and not significantly affected by age at diagnosis, race, or ethnicity. The prevalence of gPV was 17.9%, with the majority in <em>BRCA2</em> (12.7%), <em>CHEK2</em> (2.8%), and <em>BRCA1</em> (1.2%). While a weak relationship between gPV variant yield and age at diagnosis was observed, no significant relationship was observed by patient race or ethnicity.</p> <p><strong>CONCLUSION:</strong> Genetic testing uptake was consistent with universal testing recommendations for MBC. These results support genetic testing for <em>BRCA1</em> and <em>BRCA2</em> irrespective of age at MBC diagnosis, but future research is needed to assess whether screening recommendations for <em>CHEK2</em> would benefit this population based on comparative gene prevalence.</p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2026

Authors dc:creator

• Berger, Savannah
• <p>https://orcid.org/0000-0001-7196-5625</p>

Contributors dc:contributor

• Hiam Abdel-Salam, MS, CGC
• Gabriela Chen, MS, MPH, CGC
• Leslie Dunnington, MS, CGC

• germline
• BRCA2
• BRCA1
• genetic counseling
• disparity
• age at diagnosis
• race
• ethnicity
• NCCN guidelines
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
• Genetics
• Oncology

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1514

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-2571