Claims
- 1. A method for predicting a predisposition to cancer in a patient, comprising:
detecting a deletion in the BRCA1 gene, said deletion resulting from the unequal crossover between a pair of repetitive sequences in the BRCA1 gene, where said pair of repetitive sequences is selected from the group consisting of:
(1) a first Alu sequence comprising basepairs 56,705-57,010, and a second Alu sequence comprising basepairs 63,044-63,346, (2) a third Alu sequence comprising basepairs 54,676-54,965, and a fourth Alu sequence comprising basepairs 62,026-62,323, (3) a fifth Alu sequence comprising basepairs 55,865-56,164, and said fourth Alu sequence comprising basepairs 62,026-62,323, (4) said fifth Alu sequence comprising basepairs 55,865-56,164, and a sixth Alu sequence comprising basepairs 61,616-61,918, (5) a seventh Alu sequence comprising basepairs 53,006-53,171, and an eighth Alu sequence comprising basepairs 58,500-58,798, and (6) a ninth Alu sequence comprising basepairs 50,347-50,642, and a tenth Alu sequence comprising basepairs 76,803-77,098; wherein the presence of the deletion would indicate a predisposition to cancer.
- 2. The method of claim 1 wherein the detection step comprises analysis of BRCA1 genomic DNA.
- 3. The method of claim 2 wherein the analysis of BRCA1 genomic DNA comprises amplifying a region of genomic DNA in which the deletion occurs.
- 4. The method of claim 2 wherein the analysis of BRCA1 genomic DNA comprises hybridizing a nucleic acid probe to a region of genomic DNA in which the deletion occurs.
- 5. The method of claim 1 wherein the detection step comprises analysis of BRCA1 cDNA.
- 6. The method of claim 5 wherein the analysis of BRCA1 cDNA comprises amplifying a region of cDNA in which the deletion occurs.
- 7. The method of claim 5 wherein the analysis of BRCA1 cDNA comprises hybridizing a nucleic acid probe to a region of cDNA in which the deletion occurs.
- 8. The method of claim 1 wherein the detection step comprises analysis of a BRCA1 polypeptide.
- 9. The method of claim 8 wherein the analysis of a BRCA1 polypeptide comprises determining whether the polypeptide is truncated.
- 10. The method of claim 8 wherein the analysis of a BRCA1 polypeptide comprises contacting the polypeptide with an antibody.
- 11. The method of claim 1 wherein said pair of repetitive sequences in the BRCA1 gene is selected from the group consisting of:
(1) a first upstream sequence of basepairs 56,960-56,998, and a first downstream sequence of basepairs 63,296-63,334, (2) a second upstream sequence of basepairs 54,960-54,965, and a second downstream sequence of basepairs 62,143-62,147, (3) a third upstream sequence of basepairs 55,893-55,932, and a third downstream sequence of basepairs 62,049-62,088, (4) a fourth upstream sequence of basepairs 56,090-56,095, and a fourth downstream sequence of basepairs 61,838-61,843, (5) a fifth upstream sequence of basepairs 53,030-53,075, and a fifth downstream sequence of basepairs 58,659-58,704, and (6) a sixth upstream sequence of basepairs 50,524-50,577, and a sixth downstream sequence of basepairs 76,977-77,031.
- 12. The method of claim 11 wherein the detection step comprises analysis of BRCA1 genomic DNA.
- 13. The method of claim 12 wherein the analysis of BRCA1 genomic DNA comprises amplifying a region of genomic DNA in which the deletion occurs.
- 14. The method of claim 11 wherein the detection step comprises analysis of BRCA1 cDNA.
- 15. The method of claim 11 wherein the detection step comprises analysis of BRCA1 polypeptides.
- 16. The method of claim 1, wherein the deletion results in a BRCA1 genomic DNA comprising a nucleotide sequence selected from the group consisting of:
(a) SEQ ID NO:1, (b) SEQ ID NO:2, (c) SEQ ID NO:3, (d) SEQ ID NO:4, (e) SEQ ID NO:5, and (f) SEQ ID NO:6.
- 17. The method of claim 16 wherein the detection step comprises amplifying a region of genomic DNA in which the deletion occurs.
- 18. The method of claim 16 wherein the detection step comprises hybridizing a nucleic acid probe to a region of genomic DNA in which the deletion occurs.
- 19. An isolated mutant BRCA1 nucleic acid comprising a sequence selected from the group consisting of:
(a) SEQ ID NO:1, (b) SEQ ID NO:2, (c) SEQ ID NO:3, (d) SEQ ID NO:4, (e) SEQ ID NO:5, (f) SEQ ID NO:6, (g) SEQ ID NO:7, (h) SEQ ID NO:8, and (i) SEQ ID NO:9; and the complements thereof.
- 20. An isolated mutant BRCA1 polypeptide comprising a sequence selected from the group consisting of:
(a) SEQ ID NO:10, (b) SEQ ID NO:11, (c) SEQ ID NO 12, (d) SEQ ID NO 13, and (e) SEQ ID NO:14.
CROSS-REFERENCE TO RELATED U.S. APPLICATIONS
[0001] This application claims the benefit (under 35 U.S.C. §119(e)) of U.S. Provisional Application Ser. Nos. 60/387,132 filed on Jun. 7, 2002 and 60/402,430 filed on Aug. 9, 2002, which are both incorporated herein by reference in their entirety.
Provisional Applications (2)
|
Number |
Date |
Country |
|
60387132 |
Jun 2002 |
US |
|
60402430 |
Aug 2002 |
US |