# US 10,370,723 B2 · TERT fusions

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- Number: US 10,370,723 B2
- Document ID: US10370723B2
- Status: Granted
- Kind: B2
- Application number: 15/326,350
- Filed: 2015-07-15
- Published: 2017-07-13
- Granted: 2019-08-06
- Earliest claimed: 2014-07-17
- Assignees: Blueprint Medicines Corporation
- Applicants: Blueprint Medicines Corporation
- Inventors: Nicolas Stransky
- Web page: https://patentgrep.com/patent/US10370723B2

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- C07K 16/40: against enzymes
- C12Y 207/07049: RNA-directed DNA polymerase (2.7.7.49), i.e. telomerase or reverse-transcriptase
- C12Y 207/11001: Non-specific serine/threonine protein kinase (2.7.11.1), i.e. casein kinase or checkpoint kinase
- G01N 33/57557: {of other specific parts of the body, e.g. brain}
- G01N 33/57575: {involving oncogenic proteins}
- C07K 2317/34: Identification of a linear epitope shorter than 20 amino acid residues or of a conformational epitope defined by amino acid residues
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- G01N 2333/912: transferring phosphorus containing groups, e.g. kinases (2.7)
- G01N 2333/9128: RNA-directed DNA polymerases, e.g. RT (2.7.7.49)
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C07K: PEPTIDES (peptides in foodstuffs A23; obtaining protein compositions for foodstuffs, working-up proteins for foodstuffs A23J; preparations for medicinal purposes A61K; peptides containing beta-lactam rings C07D; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, C07D; ergot alkaloids of the cyclic peptide type C07D519/02; macromolecular compounds having statistically distributed amino acid units in their molecules, i.e. when the preparation does not provide for a specific; but for a random sequence of the amino acid units, homopolyamides and block copolyamides derived from amino acids C08G69/00; macromolecular products derived from proteins C08H1/00; preparation of glue or gelatine C09H; single cell proteins, enzymes C12N; genetic engineering processes for obtaining peptides C12N15/00; compositions for measuring or testing processes involving enzymes C12Q; investigation or analysis of biological material G01N33/00)
- C12Y: ENZYMES
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)

## Abstract

The invention provides TERT gene fusions, TERT fusion proteins, and fragments of those genes and polypeptides. The invention further provides methods of diagnosing diseases or disorders associated with TERT fusions, such as conditions mediated by aberrant TERT expression or activity, or overexpression of TERT.

## Claims

### Claim 1

A method for detecting in a patient a TRIO:TERT fusion, said method comprising:
a) contacting a biological sample from the patient with an oligonucleotide that hybridizes to or amplifies the TRIO:TERT fusion of SEQ ID NO: 1 or a portion thereof comprising a fusion junction; and
b) detecting (i) binding between the TRIO:TERT fusion and the oligonucleotide or (ii) detecting amplification of the TRIO:TERT fusion.

### Claim 2 (depends on 1)

The method of claim 1, wherein the oligonucleotide hybridizes under stringent conditions to (a) a fragment of SEQ ID NO:1 comprising nucleotides 4955-4964 of SEQ ID NO:1, or (b) a complementary oligonucleotide of (a).

### Claim 3 (depends on 1)

The method of claim 1, wherein the patient is suffering from or susceptible to a cancer.

### Claim 4 (depends on 3)

The method of claim 3, wherein the cancer is sarcoma.

### Claim 5 (depends on 3)

The method of claim 3, wherein the cancer is liposarcoma.