Author ORCID Identifier

https://orcid.org/0000-0001-7196-5625

Date of Graduation

5-2026

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Hiam Abdel-Salam, MS, CGC

Committee Member

Gabriela Chen, MS, MPH, CGC

Committee Member

Leslie Dunnington, MS, CGC

Committee Member

Banu Arun, MD, FASCO

Committee Member

Sharon Giordano, MD, MPH, FASCO

Committee Member

Emily Martin, MS, CGC

Abstract

PURPOSE: Male breast cancer (MBC) risk is significantly elevated by germline predisposition, most commonly in BRCA1 and BRCA2. 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): ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53, and compare genetic testing uptake and yield of gPV in the clinically actionable genes for MBC: BRCA1, BRCA2, and PALB2, by age at diagnosis, race, and ethnicity, in a MBC cohort.

METHODS: 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 p < 0.05.

RESULTS: 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 BRCA2 (12.7%), CHEK2 (2.8%), and BRCA1 (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.

CONCLUSION: Genetic testing uptake was consistent with universal testing recommendations for MBC. These results support genetic testing for BRCA1 and BRCA2 irrespective of age at MBC diagnosis, but future research is needed to assess whether screening recommendations for CHEK2 would benefit this population based on comparative gene prevalence.

Keywords

germline, BRCA2, BRCA1, genetic counseling, disparity, age at diagnosis, race, ethnicity, NCCN guidelines

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