Predisposition to breast cancer by mutations at the ataxia-telangiectasia genetic locus
OwnerMichael R. Swift, Prasanna Athma +1inventors
InventorsMichael R. Swift, Prasanna Athma, Alrong Li
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Abstract
The present invention relates generally to the field of human genetics. Specifically, the present invention relates to the discovery that some alleles of the A-T gene cause susceptibility to cancer, in particular breast cancer. More specifically, the present invention relates to germline mutations in the A-T gene and their use in the diagnosis of predisposition to breast cancer. The invention further relates to somatic mutations in the A-T gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer.
Claims18
A method for detecting an alteration in an A-T gene wherein said alteration is associated with breast cancer in a human, wherein if said alteration is in germline it is associated with predisposition to said breast cancer and if said alteration is in somatic tissue it indicates that said somatic tissue is cancerous, wherein said method comprises analyzing an A-T gene or an A-T gene expression product from a tissue of said human.
An isolated, altered A-T gene DNA, wherein said alteration is selected from the group consisting of 3245 ATC→TGAT, 8269 del 150, 2689 del 5, 1402 del AA, 1216 del GAAA and 9000 T→C.
A nucleic acid probe complementary to human altered A-T gene sequences, wherein said nucleic acid probe hybridizes to an altered A-T gene sequence having 3245 ATC→TGAT, 8269 del 150, 2689 del 5, 1402 del AA, 1216 del GAAA and 9000 T→C under hybridization conditions at which said nucleic acid probe does not hybridize to wild-type A-T gene sequences.
An isolated antibody immunoreactive with an altered A-T protein and not with a wild-type A-T protein wherein said altered A-T protein has an alteration resulting from an altered A-T gene having 3245 ATC→TGAT, 8269 del 150, 2689 del 5, 1402 del AA, 1216 del GAAA and 9000 T→C.
Dependencies are inferred from the claim text.