Chromatin Remodeling Function of BRCA1 and its Implication in Regulation of DNA Replication
Final rept. 1 Sep 1999-31 Aug 2002
VIRGINIA UNIV CHARLOTTESVILLE
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Germ line mutations in BRCA1 confer elevated risks in the development of familial breast and ovarian cancers 1 2. BRCA1 encodes a 1863-amino acid protein with a highly conserved RING finger domain at the amino terminus and two BRCT repeats at the extreme carboxyl terminus. While most disease-associated mutations of BRCA1 are predicted to result in gross function of the protein, 5-10 of the cancer-predisposing mutations cause single amino acid substitutions 3, many of which are located in the RING domain or BRCT repeats. It is generally assumed that both types of mutations lead to loss of the biological functions of the protein, however, several genotype-phenotype correlation studies suggest that BRCA1 mutations at different locations of the gene may confer different BRCA1-dependent cancer risks.
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