# US 10,119,170 B2 · Detection of chromosomal region copy number changes to diagnose melanoma

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- Number: US 10,119,170 B2
- Document ID: US10119170B2
- Status: Granted
- Kind: B2
- Application number: 14/994,977
- Filed: 2016-01-13
- Published: 2016-12-22
- Granted: 2018-11-06
- Earliest claimed: 2006-11-15
- Assignees: The Regents of the University of California
- Applicants: The Regents of the University of California
- Inventors: Boris Bastian; Daniel Pinkel
- Web page: https://patentgrep.com/patent/US10119170B2

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- 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

## Abstract

This invention provides methods of detecting melanoma. The methods comprises detecting a gain or loss of certain chromosomal regions that undergo copy number changes in melanoma.

## Claims

### Claim 1

A method of detecting a gain in copy number of a chromosomal region 6p21 in a melanoma in a human patient that has a primary mucosal melanoma, the method comprising:
contacting a DNA sample obtained from a biopsy of the primary mucosal melanoma with a probe that selectively hybridizes to the chromosomal region; and
measuring the level of binding of the probe to the DNA sample obtained from the mucosal melanoma and to a control DNA sample from a healthy tissue.

### Claim 2 (depends on 1)

The method of claim 1, wherein the contacting step comprises an in situ hybridization.

### Claim 3 (depends on 1)

The method of claim 1, wherein the probe specifically hybridizes to a gene listed in Table 1.

### Claim 4

A method of detecting a gain in copy number at a chromosomal region 6p21 in a melanoma in a patient that has a primary mucosal melanoma, the method comprising:
performing a quantitative polymerase chain reaction on a DNA sample obtained from a biopsy of a primary mucosal melanoma arising on a mucosal membrane of the patient using primers that selectively amplify DNA within chromosomal region 6p21; and
measuring the amount of amplified product obtained from the DNA sample obtained from the biopsy of the primary mucosal melanoma and from a normal control tissue.