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Friday, August 08, 2003 5:58:12 PM
My feeling is that new or revised patents have already been submitted and or updated to be more in line with the info. below.
Grant Number: 002/2001 BREAST CANCER - WOW - Testing ends 2003 see below.
PI Name: Arena, J. Fernando - Scientific Advisor to Dnap
Project Title: 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 underserved and under investigated patient population.
Institution: UNIVERSITY OF MIAMI
1475 N. W. 12TH AVE.
MIAMI, FL 33136
Fiscal Year: 2001
Department: OB/GYN
Project Start: 01-January, 2002
Project End: 31-December, 2003
FUNDING AGENCY Sylvester Comprehensive Cancer Center
Address: 1475 N.W. 12th Miami Fl, 33136
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