Author ORCID Identifier

0000-0003-3857-0562

Date of Graduation

5-2021

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Chelsea Wagner, MS, CGC

Committee Member

Rachel Bluebond, MMSc, CGC

Committee Member

Leslie Dunnington, MS, CGC

Committee Member

Erica Bednar, MS, MPH, CGC

Committee Member

Banu Arun, MD

Committee Member

Sharon Giordano, MD, MPH, FASCO

Abstract

Risk models exist to estimate a female’s lifetime risk of breast cancer in the absence of a hereditary predisposition to cancer, namely Hereditary Breast and Ovarian Cancer syndrome. These risk models consider various factors such as reproductive history and family history, but few models take a family history of male breast cancer into account. This study aims to evaluate if prevalence of breast cancer among female relatives is higher when there is a family history of male breast cancer in the context of uninformative BRCA1 and BRCA2 testing. This information may aid in the process of risk assessments for patients and their families following uninformative germline genetic testing.

A retrospective chart review was performed to compare the family histories of males with breast cancer (the case group) and males with prostate cancer (the comparison group) following uninformative BRCA1 and BRCA2 germline genetic testing. Univariate logistic regression was performed to calculate odds ratios for first- and second-degree relatives with statistical significance assumed at p < 0.05.

Our data showed a statistically significant difference in odds ratio for first-degree relatives, however the comparison group may have had a selection bias. There was no statistically significant difference in odds ratios for maternal and paternal second-degree relatives. These results support current clinical recommendations for female relatives of male breast cancer patients following uninformative BRCA1 and BRCA2 testing, however further research is needed to better characterize the risk to female family members of males with breast cancer.

Keywords

male breast cancer, BRCA, familial breast cancer, risk models

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