Methods and compositions for detecting mutations in the human pi3kca (pik3ca) gene
AssigneeRoche Molecular Systems, Inc.
InventorAlison Tsan
Life of this patent
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Abstract
The invention comprises reagents and methods for detecting cancer-associated mutations in the human PI3KCA (PIK3CA) gene and assessing the patients based thereon.
Claims12
A method of assaying a sample for the presence of one or more mutations H1047L, H1047R, H1047Y, N345K, E542K, E545A, E545G, E545K, G1049R, M1043I, Q546E, Q546L and Q546K in the human PIK3CA gene comprising contacting the sample with an allele-specific oligonucleotide for each mutation, wherein the oligonucleotide shares at least 90% identity with and has the same 3-terminal nucleotide as an oligonucleotide selected from a group consisting of SEQ ID NOs:
- 2, 18, 39, 61, 84, 100, 127, 148, 170, 185, 197, 208, 219 and comprises at least one mismatch with the naturally-occurring sequence of the human PIK3CA gene among the penultimate 5 nucleotides at the 3′-terminus of the oligonucleotide.
A set of oligonucleotides for detecting one or more mutations H1047L, H1047R, H1047Y, N345K, E542K, E545A, E545G, E545K, G1049R, M1043I, Q546E, Q546L and Q546K mutations in the PIK3CA gene comprising a combination of two or more oligonucleotides sharing at least 90% identity with and having the same 3-terminal nucleotide as:
- SEQ ID NOs:
- 2, 18, 39, 61, 84, 100, 127, 148, 170, 185, 197, 208 and 219 and comprising at least one mismatch with the naturally-occurring sequence of the human PIK3CA gene among the penultimate 5 nucleotides at the 3′-terminus of the oligonucleotide.
A reaction mixture for detecting one or more mutations H1047L, H1047R, H1047Y, N345K, E542K, E545A, E545G, E545K, G1049R, M1043I, Q546E, Q546L and Q546K in the human PIK3CA gene comprising one allele-specific oligonucleotide for each mutation sharing at least 90% identity with and having the same 3-terminal nucleotide as an oligonucleotide selected from a group consisting of SEQ ID NOs:
- 2, 18, 39, 61, 84, 100, 127, 148, 170, 185, 197, 208, 219 and comprising at least one mismatch with the naturally-occurring sequence of the human PIK3CA gene among the penultimate 5 nucleotides at the 3′-terminus of the oligonucleotide.
A method of assessing cancer in a patient by detecting in the patient's sample one or more of the mutations H1047L, H1047R, H1047Y, N345K, E542K, E545A, E545G, E545K, G1049R, M1043I, Q546E, Q546L and Q546K in the human PIK3CA gene comprising contacting the sample with one allele-specific nucleotide oligonucleotide for each mutation sharing at least 90% identity with and having the same 3-terminal nucleotide as an oligonucleotide selected from a group consisting of SEQ ID NOs:
- 2, 18, 39, 61, 84, 100, 127, 148, 170, 185, 197, 208, 219 and comprising at least one mismatch with the naturally-occurring sequence of the human PIK3CA gene among the penultimate 5 nucleotides at the 3′-terminus of the oligonucleotide.
Dependencies are inferred from the claim text.