Genetic variants on chr 5p12 and 10q26 as markers for use in breast cancer risk assessment, diagnosis, prognosis and treatment
AssigneedeCODE Genetics ehf.
InventorsSimon Stacey, Patrick Sulem, Andrei Manolescu
Life of this patent
Estimating the term…
Abstract
The invention pertains to certain genetic variants on Chr5p12 and Chr10q26 as susceptibility variants of breast cancer. Methods of disease management, including diagnosing increased and/or decreased susceptibility to breast cancer, methods of predicting response to therapy and methods of predicting prognosis using such variants are described. The invention further relates to kits useful in the methods of the invention.
Claims23
1-49. (canceled)
A method for determining an increased susceptibility to breast cancer in a human individual who has not been diagnosed with breast cancer, comprising:
- analyzing a nucleic acid sample obtained from the individual to detect the presence of allele G of polymorphic marker rs10941679 in the nucleic acid sample,
- determining an increased genetic susceptibility to breast cancer in the individual from the presence of the allele in the nucleic acid sample, and
- performing at least one of clinical breast examination (CBE), X-ray mammography, and contrast-enhanced magnetic resonance imaging (CE-MRI) in the individual determined to have the increased genetic susceptibility to breast cancer.
A method of determining risk of developing at least a second primary breast tumor in a human individual previously diagnosed with breast cancer, the method comprising:
- analyzing a nucleic acid sample obtained from the individual to detect the presence of allele G of polymorphic marker rs10941679 in a nucleic acid sample obtained from the individual,
- determining an increased genetic risk of developing at least a second primary breast tumor in the individual previously diagnosed with breast cancer from the presence of the allele in the nucleic acid sample, and
- performing at least one of clinical breast examination (CBE), X-ray mammography, and contrast-enhanced magnetic resonance imaging (CE-MRI) in the individual determined to have the increased genetic susceptibility to breast cancer.
A method of using a nucleic acid sample isolated from a human individual who has not been diagnosed with breast cancer, for determining an increased susceptibility to breast cancer in the individual, the method comprising:
- analyzing the nucleic acid sample to detect the presence of allele G of polymorphic marker rs10941679,
- determining an increased genetic susceptibility to breast cancer for the human individual from evidence that allele G of polymorphic marker rs10941679 is present in the nucleic acid sample, and
- performing at least one of clinical breast examination (CBE), X-ray mammography, and contrast-enhanced magnetic resonance imaging (CE-MRI) in the individual determined to have the increased genetic susceptibility to breast cancer.
A method for determining a susceptibility to breast cancer in a human individual, the method comprising:
- analyzing nucleic acid from the human individual for the presence of at least one allele of at least one polymorphic marker, wherein the at least one allele comprises rs10941679, allele G,
- detecting the presence of allele G of polymorphic marker rs10941679 in the sample, and
- determining an increased genetic susceptibility to breast cancer for the human individual from the presence of the at least one allele in the nucleic acid, by calculating a risk measure for the individual that includes a relative risk or odds ratio of at least 1.1 attributed to allele G of polymorphic marker rs10941679 being present in the nucleic acid sample,
- wherein the step of determining the increased genetic susceptibility to breast cancer is performed using an apparatus that comprises:
- a computer readable memory, a processor, and a 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 breast cancer risk measure of the allele as a genetic indicator of the breast cancer condition for the human individual.
Dependencies are inferred from the claim text.