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Racial Differences in Early Onset Breast Cancer
Abstract (Scientific Version)
Background: The diagnosis of breast cancer at a young age may be associated with a hereditary predisposition to the disease due to germline deleterious mutations in the BRCA1 and/or BRCA2 genes. There is a paucity of data regarding racial differences in the spectrum and frequency of mutations in these two breast cancer susceptibility genes. Information regarding the spectrum and frequency of mutations in BRCA1 and BRCA2, as it relates to differences in race, and other clinical-pathologic parameters, will be a valuable resource in understanding racial differences in the development of early onset breast cancer.
Objective/Hypothesis:We hypothesize that there are significant differences in the frequency and spectrum of mutations in the breast cancer susceptiblity genes between racially distinct populations, which may explain differences in the presentation and clinical charactaristics of disease among these populations. In the proposed research program we will determine the frequency and spectrum of mutations in the two known Breast Cancer Susceptibility Genes (BRCA1 and BRCA2) in three cohorts of racially distinct women with early onset breast cancer: White women, African American women, and Korean women.
Specfic Aims: The two specific aims of this project are: 1) to evaluate the frequency and spectrum of mutations in BRCA1 and BRCA2 in three racially distinct popuations: and 2): correlate the mutation status with other clinical-pathologic factors in these popultions.
Study design: In the proposed project, three groups of women with early onset breast cancer will be identified and recruited for genetic testing. Women will be recruited based solely on their being diagnosed with breast cancer at an early age (less than 45 years of age at diagnosis). Specifically, 100 white women, 100 African American women and 100 Korean women with early onset breast cancer will be recruited. The entire BRCA1 and BRCA2 gene will be sequenced for mutations in each patient. All clinical, pathological, and family history data will be entered into a computerized data base, along with the mutational status of the BRCA1 and BRCA2 genes. The frequency of mutations in the BRCA1/2 genes will be compared between the three racially distinct cohorts, and correlations between the BRCA1/2 status, race, family history and other clinical-pathological parameters, including molecular markers will be analyzed.
Potential outcomes and benefits of the research: This data resource will yield valuable information regarding the contributions of mutations in these genes to early onset breast cancer in these three genetically distinct populations, which will ultimately lead to improved prevention and control of breast cancer in these populations. By evaluating the incidence of the disease and family members with mutations, we will gain a better understanding of the penetrance of disease in BRCA carriers in these racially distinct populations. Correlation between the BRCA status and other clinical-pathologic criteria, will be a valuable resource in understanding the underlying biology of familial breast cancer.
Abstract (Lay version)
The diagnosis of breast cancer at a young age (early onset breast cancer) may be related to inheritance of mutations in two specific genes associated with breast cancer (BRCA1 and BRCA2). Different racial populations are likely to have different types of mutations in these genes, and may have a higher frequency of these types of mutations. Understanding differences in the frequency and types of mutations in the breast cancer susceptibilty genes among racially distinct populations will give us a better understanding of racial differences in early onset breast cancer. The purpose of the proposed study is to determine the frequency and types of mutations in the two breast cancer susceptibility genes among three racially distinct populations: White women, African American women, and Korean women.
In the proposed project, three groups of women who were diagnosed with breast cancer at an early age (less than 45 years old at the time of diagnosis) will be recruited for the study and tested for mutations in these two genes. Other information, including the family history, tumor size, tumor type, lymph node status will also be recorded for each patient. The frequency and distribution of mutations in the two breast cancer susceptibility genes among these three racially distinct populations will be compared. The genetic information will also be correlated with the other pathological and clinical data collected. The data will yield valuable information regarding racial differences in genetically linked breast cancer. Ultimately this will lead to improved prevention and control of early onset breast cancer. It will also yield information which will help us to understand differences in the biological and clinical features associated with familial breast cancer compared to sporadic breast cancer.