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    Awarded Grants
    A Clinic-Based Study of BRCA Mutation Carriage, Differences in BRCAPRO Scores, and Breast Cancer Risk Factors Among Asians and Caucasians

    Scientific Abstract:
    BACKGROUND: Previous research suggests important differences in the prevalence and penetrance of mutations in the cancer susceptibility genes BRCA1 and BRCA2 in Asian versus Caucasian women. The commonly used model to predict BRCA mutation, BRCAPRO, uses prevalence and penetrance from Caucasians; accuracy in Asians is unknown. HYPOTHESIS AND SPECIFIC AIMS: The hypothesis is that prevalence of BRCA mutations among Asians and Caucasians will differ, and that BRCAPRO will be less accurate in Asians. A further hypothesis is that breast cancer risk factors will differ among Asian and Caucasians with BRCA mutations and prior breast cancer. The specific aims are to 1) report prevalence of BRCA mutations among Asians versus Caucasians tested previously in cancer genetics clinics 2) compare rate of BRCA mutations between Asian and Caucasians matched on BRCAPRO score and 3) evaluate differences in risk factors between Asian and Caucasians with BRCA mutations and breast cancer. STUDY DESIGN: Collaborating investigators at each of five cancer centers will assess BRCA mutation rates in previously tested Asians and Caucasians. Investigators will match Asian to Caucasians at their center based on age, gender, and BRCAPRO model score within 5%, via chart review. Analysis performed centrally by the principal investigator will assess accuracy of BRCAPRO for Asians versus Caucasians. Asians and Caucasian women with BRCA mutations and breast cancer will be recruited during the study, and given questionnaires to assess demographic and breast cancer risk factors; analysis centrally by the principal investigator will evaluate ethnic differences. POTENTIAL OUTCOMES AND BENEFITS: This study is expected to determine whether BRCAPRO is an appropriate risk-assessment tool for Asians, and to generate key hypotheses about gene-gene or gene-environment interactions important in BRCA-related breast cancer. Further exploration of such hypotheses may permit optimization of breast cancer detection, prevention or treatment specifically for Asian or Caucasian BRCA mutation carriers. A better understanding of BRCA-related carcinogenesis would benefit the significant number of American women with an inherited mutation, and the many more who develop dysfunction of BRCA-related pathways in sporadic breast cancer.

    Lay Abstract:
    BACKGROUND: Previous research suggests important differences in rates of mutations in the cancer susceptibility genes BRCA1 and BRCA2 in Asian versus Caucasian women, and differences in the characteristics of their breast cancers. The BRCAPRO model, widely used by clinicians to predict a patient’s risk of having inherited a BRCA mutation, was developed in Caucasians, and its accuracy in Asians is not known. HYPOTHESIS AND SPECIFIC AIMS: The hypothesis is that rates of BRCA mutations among Asians and Caucasians will differ, and that BRCAPRO will less accurately predict mutations in Asians. A further hypothesis is that breast cancer risk factors will differ among Asian and Caucasians with BRCA mutations and prior breast cancer. The specific aims are to 1) report rates of BRCA mutations among Asians versus Caucasians seen in breast and genetics clinics 2) compare BRCA mutation rates between Asian and Caucasians with the same BRCAPRO score and 3) evaluate differences in known breast cancer risk factors between Asian and Caucasians with BRCA mutations and prior breast cancer. STUDY DESIGN: Collaborating investigators at each of five cancer centers will assess BRCA mutation rates of previously tested Asians and Caucasians. Investigators will match Asian to Caucasian patients based on age, gender, and BRCAPRO model score using patients’ medical records. Analysis performed centrally by the principal investigator will assess BRCAPRO’s accuracy in predicting BRCA mutations for Asians versus Caucasians. Demographic and breast cancer risk information will be collected by questionnaire given to Asian and Caucasian BRCA mutation carriers with prior breast cancer, and analysis performed centrally by the principal investigator will evaluate ethnic differences. POTENTIAL OUTCOMES AND BENEFITS: This study is expected to determine whether BRCAPRO should be used to assess risk of BRCA mutation in Asians, and to suggest key ethnic differences in BRCA-related breast cancer. Such observations may permit optimization of breast cancer detection, prevention or treatment specifically for Asian or Caucasian women. Greater understanding of BRCA-related breast cancer will benefit the many women of all ethnicities who either inherit a BRCA mutation, or develop BRCA dysfunction associated with their breast cancer.