IPC분류정보
국가/구분 |
United States(US) Patent
등록
|
국제특허분류(IPC7판) |
|
출원번호 |
US-0315114
(2008-11-26)
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등록번호 |
US-8697360
(2014-04-15)
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우선권정보 |
IS-8696 (2007-11-30) |
발명자
/ 주소 |
- Thorlacius, Steinunn
- Sulem, Patrick
- Gudmundsson, Julius
|
출원인 / 주소 |
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대리인 / 주소 |
Marshall, Gerstein & Borun LLP
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인용정보 |
피인용 횟수 :
0 인용 특허 :
16 |
초록
▼
It has been discovered that certain polymorphic markers on chromosome 6 and chromosome 11 are indicative of a susceptibility to prostate cancer and colon cancer. The invention describes diagnostic applications for determining a susceptibility to cancer using such markers, as well as kits for use in
It has been discovered that certain polymorphic markers on chromosome 6 and chromosome 11 are indicative of a susceptibility to prostate cancer and colon cancer. The invention describes diagnostic applications for determining a susceptibility to cancer using such markers, as well as kits for use in such applications.
대표청구항
▼
1. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele G of polymorphic marker rs10896450,detecting the presence of allele G of pol
1. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele G of polymorphic marker rs10896450,detecting the presence of allele G of polymorphic marker rs10896450 in the sample, anddetermining an increased susceptibility to prostate cancer in the human individual by calculating a risk score for the individual which is the product of the risk values for a plurality of factors, wherein one of the factors is a relative risk (RR) or odds ratio of at least 1.1 attributed to the presence of allele G of polymorphic marker rs10896450 in the nucleic acid sample of the individual, wherein the determining is performed using an apparatus comprising:a computer readable memory;a processor; anda routine stored on the computer readable memory; wherein the routine is adapted to be executed on the processor to analyze genotype data with respect to at least polymorphic marker rs10896450, and generate an output based on the genotype data, wherein the output comprises a risk score for the human individual with respect to prostate cancer. 2. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele A of polymorphic marker rs11228565,detecting the presence of allele A of polymorphic marker rs11228565 in the sample, anddetermining an increased susceptibility to prostate cancer in the human individual by calculating a risk score for the individual which is the product of the risk values for a plurality of factors, wherein one of the factors is a relative risk (RR) or odds ratio of at least 1.1 attributed to the presence of allele A of polymorphic marker rs11228565 in the nucleic acid sample of the individual, wherein the determining is performed using an apparatus comprising:a computer readable memory;a processor; anda routine stored on the computer readable memory; wherein the routine is adapted to be executed on the processor to analyze genotype data with respect to at least polymorphic marker rs11228565, and generate an output based on the genotype data, wherein the output comprises a risk score for the human individual with respect to prostate cancer. 3. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele A of polymorphic marker rs7947353,detecting the presence of allele A of polymorphic marker rs7947353 in the sample, anddetermining an increased susceptibility to prostate cancer in the human individual by calculating a risk score for the individual which is the product of the risk values for a plurality of factors, wherein one of the factors is a relative risk (RR) or odds ratio of at least 1.1 attributed to the presence of allele A of polymorphic marker rs7947353 in the nucleic acid sample of the individual, wherein the determining is performed using an apparatus comprising:a computer readable memory;a processor; anda routine stored on the computer readable memory; wherein the routine is adapted to be executed on the processor to analyze genotype data with respect to at least polymorphic marker rs7947353, and generate an output based on the genotype data, wherein the output comprises a risk score for the human individual with respect to prostate cancer. 4. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele G of polymorphic marker rs10896450,detecting the presence of allele G of polymorphic marker rs10896450 in the sample,determining an increased genetic susceptibility to prostate cancer in the human individual attributed to the presence of allele G of polymorphic marker rs10896450 in the nucleic acid sample of the individual, andperforming a prostate Specific Antigen (PSA) test, a Digital Rectal Examination and/or a prostate biopsy on the individual determined to have the increased genetic susceptibility. 5. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele A of polymorphic marker rs11228565,detecting the presence of allele A of polymorphic marker rs 11228565 in the sample,determining an increased genetic susceptibility to prostate cancer in the human individual attributed to the presence of allele A of polymorphic marker rs11228565 in the nucleic acid sample of the individual, andperforming a prostate Specific Antigen (PSA) test, a Digital Rectal Examination and/or a prostate biopsy on the individual determined to have the increased genetic susceptibility. 6. A method for determining a susceptibility to prostate cancer in a human individual, the method comprising: analyzing a nucleic acid sample obtained from the human individual to determine the presence or absence of allele A of polymorphic marker rs7947353,detecting the presence of allele A of polymorphic marker rs7947353 in the sample,determining an increased genetic susceptibility to prostate cancer in the human individual attributed to the presence of allele A of polymorphic marker rs7947353 in the nucleic acid sample of the individual, andperforming a prostate Specific Antigen (PSA) test, a Digital Rectal Examination and/or a prostate biopsy on the individual determined to have the increased genetic susceptibility. 7. The method according to claim 4, wherein the step of determining a susceptibility includes calculating a risk score for the individual that includes a relative risk (RR) or odds ratio of at least 1.1 attributed to allele G of polymorphic marker rs10896450 being present in the nucleic acid sample of the individual. 8. The method according to claim 5, wherein the step of determining a susceptibility includes calculating a risk score for the individual that includes a relative risk (RR) or odds ratio of at least 1.1 attributed to allele A of polymorphic marker rs11228565 being present in the nucleic acid sample of the individual. 9. The method according to claim 6, wherein the step of determining a susceptibility includes calculating a risk score for the individual that includes a relative risk (RR) or odds ratio of at least 1.1 attributed to allele A of polymorphic marker rs7947353 being present in the nucleic acid sample of the individual. 10. The method according to claim 1, further comprising assessing at least one non-genetic factor to make a susceptibility assessment, and determining a susceptibility to prostate cancer for the individual from the combination of the at least one non-genetic factor and the presence of allele G of polymorphic marker rs10896450. 11. The method according to claim 10, wherein the non-genetic factor comprises a measurement of prostate specific antigen (PSA) from the individual. 12. The method according to claim 2, further comprising assessing at least one non-genetic factor to make a susceptibility assessment, and determining a susceptibility to prostate cancer for the individual from the combination of the at least one non-genetic factor and the presence of allele A of polymorphic marker rs11228565. 13. The method according to claim 12, wherein the non-genetic factor comprises a measurement of prostate specific antigen (PSA) from the individual. 14. The method according to claim 3, further comprising assessing at least one non-genetic factor to make a susceptibility assessment, and determining a susceptibility to prostate cancer for the individual from the combination of the at least one non-genetic factor and the presence of allele A of polymorphic marker rs7947353. 15. The method according to claim 14, wherein the non-genetic factor comprises a measurement of prostate specific antigen (PSA) from the individual. 16. The method according to claim 1 or 4, wherein the human individual has a Caucasian ancestry, as self-reported by the individual. 17. The method according to claim 2 or 5, wherein the human individual has a Caucasian ancestry, as self-reported by the individual. 18. The method according to claim 3 or 6, wherein the human individual has a Caucasian ancestry, as self-reported by the individual. 19. The method according to claim 1 or 4, further comprising communicating the susceptibility determination to at least one entity selected from the group consisting of the individual, a guardian for the individual, a physician or healthcare worker, a genetic counselor, or an insurer. 20. The method according to claim 19, wherein the communicating comprises making the susceptibility determination available via secure internet interface. 21. The method according to claim 2 or 5, further comprising communicating the susceptibility determination to at least one entity selected from the group consisting of the individual, a guardian for the individual, a physician or healthcare worker, a genetic counselor, or an insurer. 22. The method according to claim 21, wherein the communicating comprises making the susceptibility determination available via secure internet interface. 23. The method according to claim 3 or 6, further comprising communicating the susceptibility determination to at least one entity selected from the group consisting of the individual, a guardian for the individual, a physician or healthcare worker, a genetic counselor, or an insurer. 24. The method according to claim 23, wherein the communicating comprises making the susceptibility determination available via secure internet interface. 25. The method according to claim 1 or 4, wherein the nucleic acid sample is from a human individual who has not been diagnosed with prostate cancer. 26. The method according to claim 2 or 5, wherein the nucleic acid sample is from a human individual who has not been diagnosed with prostate cancer. 27. The method according to claim 3 or 6, wherein the nucleic acid sample is from a human individual who has not been diagnosed with prostate cancer. 28. The method according to claim 1 or 4, wherein the step of analyzing the nucleic acid sample comprises at least one nucleic acid analysis technique selected from: polymerase chain reaction, allele-specific hybridization, nucleic acid sequencing, single-stranded conformation analysis, and electrophoresis. 29. The method according to claim 2 or 5, wherein the step of analyzing the nucleic acid sample comprises at least one nucleic acid analysis technique selected from: polymerase chain reaction, allele-specific hybridization, nucleic acid sequencing, single-stranded conformation analysis, and electrophoresis. 30. The method according to claim 3 or 6, wherein the step of analyzing the nucleic acid sample comprises at least one nucleic acid analysis technique selected from: polymerase chain reaction, allele-specific hybridization, nucleic acid sequencing, single-stranded conformation analysis, and electrophoresis. 31. The method according to any one of claims 1, 2, and 3, wherein the determining of susceptibility is performed using a computer-readable medium on which is stored: an identifier for the at least one polymorphic marker;an indicator of the frequency of at least one allele of the polymorphic marker in a plurality of individuals diagnosed with prostate cancer; andan indicator of the frequency of the at least one allele of the polymorphic marker in a plurality of reference individuals. 32. The method according to any one of claims 4, 5, and 6, wherein the determining of increased genetic susceptibility is performed using an apparatus, the apparatus comprising: a computer readable memory and a processor; anda routine stored on the computer readable memory; wherein the routine is adapted to be executed on the processor to analyze marker information for at least one human individual with respect to the polymorphic marker, and generate an output based on the marker information, wherein the output comprises a risk measure of the polymorphic marker as a genetic indicator of susceptibility to prostate cancer for the individual. 33. The method according to claim 32, wherein the routine further comprises an indicator of the frequency of at least one allele of the at least one polymorphic marker in a plurality of individuals diagnosed with prostate cancer, and an indicator of the frequency of the at least one allele of the polymorphic marker in a plurality of reference individuals, and wherein a risk measure is based on a comparison of allelic status of the at least one marker determined for the human individual from the sample and the indicators of the frequency of the at least one allele in the pluralities of individuals. 34. The method according to claim 33, wherein the risk measure is characterized by an Odds Ratio (OR) or a Relative Risk (RR). 35. The method according to any one of claims 1-3, further comprising measuring Prostate Specific Antigen or performing Digital Rectal Examination on a subject identified as having increased genetic susceptibility to prostate cancer.
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