IP Library › Granted Patent US 9,702,011
Granted Patent B2
US 9,702,011 · App. 14/738,639 · Granted Jul 11, 2017

Markers for breast cancer

Inventors: David Cox (Belmont, CA); Dennis Ballinger (Menlo Park, CA); Bruce Ponder (Cambridge, GB); Doug Easton (Welwyn, GB)
Assignee: Cambridge Enterprise Limited
C12Q1/6886C12Q2600/106C12Q2600/136C12Q2600/156C12Q2600/16
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Quick Facts
Patent No.
US 9,702,011
App. No.
14/738,639
Granted
Jul 11, 2017
Kind
B2
Abstract

Correlations between polymorphisms and breast cancer are provided. Methods of diagnosing, prognosing, and treating breast cancer are provided. Systems and kits for diagnosis, prognosis and treatment of breast cancer are provided. Methods of identifying breast cancer modulators are also described.

Claims (48)

1. A method of determining the identity of the alleles of single nucleotide polymorphisms (SNPs) in a woman subject selected from the group of subjects consisting of women in need of screening for breast cancer susceptibility to produce a polymorphic profile of the selected woman subject in need of breast cancer screening, comprising

(i) obtaining a biological sample comprising a genome from the selected woman subject in need of breast cancer screening;

(ii) selecting for allelic identity analysis at least a SNP located at rs2981582 within the genome of the selected woman subject in need of breast cancer screening;

(iii) assaying, with a probe or a primer, whether

a) the selected woman subject is homozygous or heterozygous for an adenine (A) allele located at rs2981582 within the nucleotide sequence of the genome in the biological sample of step (i),

wherein

if the assaying is with a primer, then the assaying comprises

(1) hybridizing a primer to a nucleic acid, the nucleic acid having the SNP located at rs2981582, or

(2) hybridizing a primer to a nucleic acid having the sequence of an allele located at rs2981582 within the nucleotide sequence of the genome of the woman subject, and

if the assaying is with a probe, then the assaying comprises

hybridizing a probe to a nucleic acid having the sequence of the adenine (A) allele located at rs2981582 within the nucleotide sequence of the genome of the woman subject, and

(iv) producing the polymorphic profile of the selected woman subject in need of breast cancer screening based on the identity of the alleles assayed in step (iii).

2. The method of claim 1 , wherein the selected woman subject in need of screening for breast cancer susceptibility has at least two first degree relatives who have had breast cancer.

3. The method of claim 2 , wherein the two first degree relatives of the selected woman subject in need of screening for breast cancer susceptibility are siblings of the woman subject in need of screening for breast cancer susceptibility.

4. The method of claim 2 , wherein one of the first degree relatives of the selected woman subject in need of screening for breast cancer susceptibility is the mother of the woman subject in need of screening for breast cancer susceptibility.

5. The method of claim 1 , wherein the selected woman subject in need of screening for breast cancer susceptibility has one first and two second degree relatives who have had breast cancer.

6. The method of claim 5 , wherein the first degree relative of the selected woman subject in need of screening for breast cancer susceptibility is the mother of the selected woman subject in need of screening for breast cancer susceptibility.

7. The method of claim 1 , wherein the selected woman subject in need of screening for breast cancer susceptibility is not known to have developed cancer.

8. The method of claim 1 , wherein the selected woman subject in need of screening for breast cancer susceptibility does not have a BRCA1/2 mutation.

9. The method of claim 1 , wherein the selected woman subject in need of screening for breast cancer susceptibility is postmenopausal.

10. The method of claim 1 , further comprising assaying, with a probe or a primer, the identity of an allele of a SNP which is located at rs3817198 in the genome of the selected woman subject in need of breast cancer screening by selecting for allelic identity analysis the allele which is located at rs3817198 in the genome of the selected woman subject in need of breast cancer screening and determining whether the selected woman subject is homozygous or heterozygous for a thymine (T) allele located at rs3817198 within the nucleotide sequence of the genome in the biological sample of step (i).

11. A method of determining the identity of the alleles of single nucleotide polymorphisms (SNPs) in a woman subject selected from the group of subjects consisting of women in need of screening for breast cancer susceptibility to produce a polymorphic profile of the selected woman subject in need of breast cancer screening, comprising

(i) obtaining a biological sample comprising a genome from the selected woman subject in need of breast cancer screening;

(ii) selecting for allelic identity analysis at least a SNP located at rs2981582, and a SNP located at rs6504950 within the genome of the selected woman subject in need of breast cancer screening;

(iii) assaying, with a probe or a primer, whether

a) the selected woman subject is homozygous or heterozygous for an adenine (A) allele located at rs2981582 within the nucleotide sequence of the genome in the biological sample of step (i),

wherein

if the assaying is with a primer, then the assaying comprises

(1) hybridizing a primer to a nucleic acid, the nucleic acid having the SNP located at rs2981582, or

(2) hybridizing a primer to a nucleic acid having the sequence of an allele located at rs2981582 within the nucleotide sequence of the genome of the woman subject, and

if the assaying is with a probe, then the assaying comprises

hybridizing a probe to a nucleic acid having the sequence of the adenine (A) allele located at rs2981582 within the nucleotide sequence of the genome of the woman subject, and

b) the selected woman subject is homozygous or heterozygous for an adenine (A) allele located at rs6504950 within the nucleotide sequence of the genome in the biological sample of step (i),

wherein

if the assaying is with a primer, then the assaying comprises

(1) hybridizing a primer to a nucleic acid, the nucleic acid having the SNP located at rs6504950, or

(2) hybridizing a primer to a nucleic acid having the sequence of an allele located at rs6504950 within the nucleotide sequence of the genome of the woman subject, and

if the assaying is with a probe, then the assaying comprises

hybridizing a probe to a nucleic acid having the sequence of the adenine (A) allele located at rs6504950 within the nucleotide sequence of the genome of the woman subject, and

(iv) producing the polymorphic profile of the selected woman subject in need of breast cancer screening based on the identity of the alleles assayed in step (iii).

12. The method of claim 11 , wherein the selected woman subject in need of screening for breast cancer susceptibility has at least two first degree relatives who have had breast cancer.

13. The method of claim 12 , wherein the two first degree relatives of the selected woman subject in need of screening for breast cancer susceptibility are siblings of the woman subject in need of screening for breast cancer susceptibility.

14. The method of claim 12 , wherein one of the first degree relatives of the selected woman subject in need of screening for breast cancer susceptibility is the mother of the woman subject in need of screening for breast cancer susceptibility.

15. The method of claim 11 , wherein the selected woman subject in need of screening for breast cancer susceptibility has one first and two second degree relatives who have had breast cancer.

16. The method of claim 15 , wherein the first degree relative of the selected woman subject in need of screening for breast cancer susceptibility is the mother of the selected woman subject in need of screening for breast cancer susceptibility.

17. The method of claim 11 , wherein the selected woman subject in need of screening for breast cancer susceptibility is not known to have developed cancer.

18. The method of claim 11 , wherein the selected woman subject in need of screening for breast cancer susceptibility does not have a BRCA1/2 mutation.

19. The method of claim 11 , wherein the selected woman subject in need of screening for breast cancer susceptibility is postmenopausal.

Continuity (5)
Continuation 12370972 · Feb 13, 2009
Division 11606634 · Nov 29, 2006
Provisional Application 60740971 · Nov 29, 2005
Provisional Application 60781483 · Mar 10, 2006
Related Publication 20150354010A1 · Dec 10, 2015