This proposal aims to apply recent advances in the understanding of BRCA1 and BRCA2 function to the clinical problem of uncharacterized variant alleles of BRCA1 and BRCA2. As more women have their BRCA1 and BRCA2 genes sequenced, distinguishing between true- disease causing alleles and benign polymorphisms has become a critical clinical issue. At present, no assay exists that reflects the tumor suppression activity of these genes.
In Specific Aim 1 we propose to develop an assay based on the ability of various alleles to complement defects in radiation resistance and DNA double strand break repair in a BRCA1-BRCA2 demonstrate the haploinsufficiency. If this is the case, we will investigate the possibility that any much phenotype could form the basis for an assay aimed at distinguishing benign from disease-linked alleles of BRCA1 and BRCA2.

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Specialized Center (P50)
Project #
1P50CA089393-01
Application #
6402281
Study Section
Special Emphasis Panel (ZCA1)
Project Start
2000-09-30
Project End
2005-09-29
Budget Start
Budget End
Support Year
1
Fiscal Year
2000
Total Cost
Indirect Cost
Name
Dana-Farber Cancer Institute
Department
Type
DUNS #
149617367
City
Boston
State
MA
Country
United States
Zip Code
02115
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