GENETIC VARIANTS ON CHR2 AND CHR16 AS MARKERS FOR USE IN BREAST CANCER RISK ASSESSMENT, DIAGNOSIS, PROGNOSIS AND TREATMENT
First Claim
1. A method for determining a susceptibility to breast cancer in a human individual, comprising determining the presence or absence of at least one allele of at least one polymorphic marker in a nucleic acid sample obtained from the individual or in a genotype dataset derived from the individual, wherein the at least one polymorphic marker is selected from the polymorphic markers set forth in any one of Table 10, Table 15 and Table 19, and markers in linkage disequilibrium therewith, and wherein the presence of the at least one allele is indicative of a susceptibility to breast cancer for the individual.
2 Assignments
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Accused Products
Abstract
The invention pertains to certain genetic variants on Chr2q14, Chr2q35 and Chr16q12 as susceptibility variants of breast cancer. Methods of risk assessment and diagnosis of increased and/or decreased susceptibility to breast cancer, using such variants are described. The invention further relates to kits for diagnosing a susceptibility to breast cancer.
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Citations
56 Claims
- 1. A method for determining a susceptibility to breast cancer in a human individual, comprising determining the presence or absence of at least one allele of at least one polymorphic marker in a nucleic acid sample obtained from the individual or in a genotype dataset derived from the individual, wherein the at least one polymorphic marker is selected from the polymorphic markers set forth in any one of Table 10, Table 15 and Table 19, and markers in linkage disequilibrium therewith, and wherein the presence of the at least one allele is indicative of a susceptibility to breast cancer for the individual.
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21. A method of determining risk of developing at least a second primary tumor in an individual previously diagnosed with breast cancer, the method comprising determining the presence or absence of at least one allele of at least one polymorphic marker in a nucleic acid sample obtained from the individual, or in a genotype dataset derived from the individual, wherein the at least one polymorphic marker is selected from the polymorphic markers set forth in any one of Table 10, Table 15 and Table 19, and markers in linkage disequilibrium therewith,
and wherein the presence of the at least one allele is indicative of risk of developing at least a second primary tumor.
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23. A kit for assessing susceptibility to breast cancer in a human individual, the kit comprising reagents for selectively detecting at least one allele of at least one polymorphic marker in the genome of the individual, wherein the polymorphic marker is selected from the markers set forth in Tables 10, 15 and 19, and markers in linkage disequilibrium therewith, and wherein the presence of the at least one allele is indicative of a susceptibility to breast cancer.
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24-28. -28. (canceled)
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29. An apparatus for determining a genetic indicator for breast cancer in a human individual, comprising:
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a computer readable memory; and a routine stored on the computer readable memory; wherein the routine is adapted to be executed on a processor to analyze marker and/or haplotype information for at least one human individual with respect to at least one polymorphic marker selected from the markers set forth in Table 10, Table 15 and Table 19 and markers in linkage disequilibrium therewith, and generate an output based on the marker or haplotype information, wherein the output comprises an individual risk measure of the at least one marker or haplotype as a genetic indicator of breast cancer for the human individual. - View Dependent Claims (30, 31)
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32. (canceled)
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33. (canceled)
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34. A method of identification of a marker for use in assessing susceptibility to breast cancer, the method comprising:
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d. identifying at least one polymorphic marker in linkage disequilibrium with at least one of the markers within the genomic segments with sequence as set forth in SEQ ID NO;
4, SEQ ID NO;
5 and SEQ ID NO;
6;e. determining the genotype status of a sample of individuals diagnosed with, or having a susceptibility to, breast cancer; and f. determining the genotype status of a sample of control individuals; wherein a significant difference in frequency of at least one allele in at least one polymorphism in individuals diagnosed with, or having a susceptibility to, breast cancer, as compared with the frequency of the at least one allele in the control sample is indicative of the at least one polymorphism being useful for assessing susceptibility to breast cancer. - View Dependent Claims (35, 36, 37, 38, 39, 40)
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- 41. A method of genotyping a nucleic acid sample obtained from a human individual at risk for, or diagnosed with, breast cancer, comprising determining the presence or absence of at least one allele of at least one polymorphic marker in the sample, wherein the at least one marker is selected from the group consisting of the markers set forth in Table 10, Table 15 and Table 19, and markers in linkage disequilibrium therewith, and wherein the presence or absence of the at least one allele of the at least one polymorphic marker is indicative of a susceptibility of breast cancer.
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48. (canceled)
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49. A method of predicting prognosis of an individual diagnosed with breast cancer, the method comprising determining the presence or absence of at least one allele of at least one polymorphic marker in a nucleic acid sample obtained from the individual, wherein the at least one polymorphic marker is selected from the group consisting of the polymorphic markers set forth in Table 10, Table 15 and Table 19, and markers in linkage disequilibrium therewith, wherein the presence of the at least one allele is indicative of a worse prognosis of the breast cancer in the individual.
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50. (canceled)
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51. (canceled)
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52. (canceled)
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53. A computer-readable medium on which is stored:
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d. an identifier for at least one polymorphic marker; e. an indicator of the frequency of at least one allele of said at least one polymorphic marker in a plurality of individuals diagnosed with breast cancer; and f. an indicator of the frequency of the least one allele of said at least one polymorphic markers in a plurality of reference individuals; wherein the at least one polymorphic marker is selected from the polymorphic markers set forth in Table 10, Table 15 and Table 19, and polymorphic markers in linkage disequilibrium therewith. - View Dependent Claims (54, 55, 56)
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Specification