Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Jennifer Litton, MD

Committee Member

Jessica Profato, MS, CGC

Committee Member

Denise Nebgen, MD, PhD

Committee Member

Yuanqing Ye, PhD

Committee Member

Susan Peterson, PhD, MPH

Committee Member

Claire Singletary, MS, CGC


Mutations in the BRCA1 or BRCA2 genes are associated with increased risks for breast, ovarian, and several other cancers. The purpose of this study was to evaluate the incidence of cancers in first and second degree relatives of BRCA mutation carriers compared to the general population. A total of 1086 pedigrees of BRCA mutation carriers were obtained from a prospectively maintained, internal review board approved study of persons referred for clinical genetic counseling at The University of Texas MD Anderson Cancer Center. We identified 9032 first and second degree relatives from 784 pedigrees which demonstrated a clear indication of parental origin of mutation. Standardized incidence ratios (SIRs) were used to compare the observed incidence of 20 primary cancer sites to the expected incidence of each cancer based on calculated risk estimates according to a subject’s age.

BRCA1 families had increased SIRs for breast and ovarian cancer (pBRCA2 families had increased SIRs for breast, ovarian, and pancreatic cancer (pBRCA mutations. Additional research to quantify the relative risks of these cancers for BRCA mutation carriers can help tailor recommendations for risk reduction.


BRCA, HBOC, hereditary breast and ovarian cancer, cancer spectrum, breast cancer, ovarian cancer, pancreatic cancer, first degree relatives, second degree relatives