Susceptibility mutation 6495delGC of BRCA2
DCFirst Claim
Patent Images
1. An isolated oligonucleotide that specifically hybridizes to a BRCA2 nucleotide sequence, wherein the BRCA2 nucleotide sequence comprises a two nucleotide deletion corresponding to positions 8 and 9 of SEQ ID NO:
- 3, relative to a BRCA2 nucleotide sequence that does not contain the deletion.
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Abstract
A new mutation has been found in the BRCA2 gene. The mutation is a twobase pair deletion of nucleotide 6495 at nucleotides 6495 of the published cDNA sequence of BRCA2. A process for identifying a sequence variation in a BRCA2 polynucleotide sequence is disclosed. The identification process includes allele specific sequence-based techniques assays of known sequence variations. The methods can be used for efficient and accurate detection of a mutation in a test BRCA2 gene sample.
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Citations
20 Claims
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1. An isolated oligonucleotide that specifically hybridizes to a BRCA2 nucleotide sequence, wherein the BRCA2 nucleotide sequence comprises a two nucleotide deletion corresponding to positions 8 and 9 of SEQ ID NO:
- 3, relative to a BRCA2 nucleotide sequence that does not contain the deletion.
- View Dependent Claims (2, 3, 4, 5, 14, 15, 16, 17, 18, 19, 20)
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6. An isolated oligonucleotide that specifically hybridizes to a BRCA2 nucleotide sequence, wherein the BRCA2 nucleotide sequence comprises a stop codon beginning at a position corresponding to position 9 of SEQ ID NO:
- 3, relative to a BRCA2 nucleotide sequence that does not contain the stop codon.
- View Dependent Claims (7, 8)
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9. An isolated oligonucleotide that specifically hybridizes to a BRCA2 nucleotide sequence corresponding to positions 9 to 11 of SEQ ID NO:
- 3, relative to a BRCA2 nucleotide sequence comprising a two nucleotide deletion corresponding to positions 8 and 9 of SEQ ID NO;
3. - View Dependent Claims (10, 11)
- 3, relative to a BRCA2 nucleotide sequence comprising a two nucleotide deletion corresponding to positions 8 and 9 of SEQ ID NO;
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12. An isolated oligonucleotide consisting of the sequence 5′
- -TAC AGC AAG TGG AAA GC (SEQ ID NO;
1).
- -TAC AGC AAG TGG AAA GC (SEQ ID NO;
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13. An isolated oligonucleotide consisting of the sequence 5′
- -AAG TTT CAG TTT TAC CAA T-3′
(SEQ ID NO;
2).
- -AAG TTT CAG TTT TAC CAA T-3′
Specification