Pharmacogenomics Approach to the Treatment and Management of Ovarian Cancer.
PURPOSE:
Many different drugs are available for cancer patients. Some of these drugs work better than others. Scientists believe that differences among patients may explain why some drugs work on some people and others do not. It is thought that these differences might best be explained by differences in genetic makeup among people.
In other words, the genes that make us who we are -- determine height, eye color and other traits -- might also explain how different people respond to different medical treatments.
The purpose of this project is to study the genes that might be involved when your body processes the various cancer medicines you were, or are being treated with.
In other words, by studying your genes we hope to learn how they cause your body to respond to the chemotherapy you are receiving or have received.
With this improved understanding, we hope to be able in the future to design drugs that will be most appropriate for specific patients. That is, we hope that in the future we will be able to use patients' genetic makeup to provide medicines that are customized or targeted toward their particular needs.
PROCEDURES:
If you decide to participate in this study, a laboratory technician will draw 2 extra tablespoons of blood while blood is being taken as part of regular testing. (You will not be stuck with a needle any more than is already required for treatment and related testing.) If tissue is available from your surgery, a small sample will be collected for this study. No extra tissue will be removed for the purpose of this study. These samples will be used to prepare your genetic material for the test.
If you are interested in participating in this study, click on the link below to request an appointment. Be sure to include the name of the study in the “Reason for Appointment” field. REQUEST AN APPOINTMENT
Development of a BRCA1 and BRCA2 mutation screening assay for women of African descent.
Abstract: DESCRIPTION: (Adapted from investigator's abstract)
The long term objective of this application is to develop and to clinically validate a screening panel for specific BRCA1 and BRCA2 mutation/genetic variants in women of African descent with breast cancer. The development of such panel will allow its incorporation into clinical practice with clear improvement of genetic counseling for this minority population. African-American women under age 50 in the United States have the highest rate of new cases of breast cancer in the nation. In addition, African-American women of all ages have a larger percentage of poorly differentiated breast cancer that is more likely to occur at an earlier age, and to be estrogen and progesterone receptor negative - all factors associated with more aggressive tumorgenicity. Based on this preliminary data and a thorough review of all published English literature, we have identified thirteen mutations and thirteen unclassified variants in BRCA1 and six mutations and ten variants in BRCA2. A screening panel for such BRCA1 and BRCA2 mutations/variants will be designed to develop an efficient assay for eventual use in clinical practice. This assay is based on a combination of multiplex PCR and multiplex SSCP in order to provide a high throughput screening method for the above designated genetic alterations. SSCP variants will be further investigated by DNA sequencing to confirm the exact genetic change. The development of this screening panel will have an important impact on genetic counseling for women of African descent. It may also be helpful in anticipating the design of preventive strategies (mammography, chemoprevention, or prophylactic surgery) and in selecting appropriate therapeutic protocols for this under-served and under-investigated patient population.
AI
