Mutations in the BRCA1 gene
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United States of America Patent
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Issued Date -
Dec 25, 2003
app pub date -
Oct 22, 2001
filing date -
Mar 12, 1998
priority date (Note) -
Abandoned
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Abstract
Mutations resulting in stop codons in the BRCA1 gene are described. All of these mutations result in the formation of a truncated BRCA1 protein. Methods for identifying a sequence variation in a BRCA1 polynucleotide sequence are disclosed. The identification process includes allele specific sequence-based assays of known sequence variations. The methods can be used for efficient, and accurate detection of a mutation in a test BRCA1 gene sample for diagnostic and therapeutic purposes.
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