# US 7,611,870 B2 · Methods for identifying cancer risk

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- Number: US 7,611,870 B2
- Document ID: US7611870B2
- Status: Granted
- Kind: B2
- Application number: 10/336,552
- Filed: 2003-01-03
- Published: 2004-01-01
- Granted: 2009-11-03
- Earliest claimed: 2002-06-27
- Assignees: The Johns Hopkins University School of Medicine
- Inventors: Andrew P. Feinberg
- Web page: https://patentgrep.com/patent/US7611870B2

## CPC

- C12Q 1/6858: Allele-specific amplification
- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- G01N 33/575: for cancer
- G01N 33/57535: of the large intestine, e.g. colon, rectum or anus
- C12Q 2600/154: Methylation markers
- C12Q 2600/156: Polymorphic or mutational 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
- 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 present invention provides methods and kits for identifying an increased risk of developing cancer in a subject. The methods include analyzing a first biological sample, such as a blood sample, from the subject for loss of imprinting of the IGF2 gene. According to the methods a loss of imprinting is indicative of an increased risk of developing cancer. The method can include analyzing genomic DNA from the sample for altered methylation of the IGF2 gene. The altered methylation for example includes hypomethylation of a differentially methylated region of IGF2, corresponding to SEQ ID NO:1 or a polymorphism thereof. The method can be performed on a subject having no apparent or suspected hyperproliferative disorder such as cancer.

## Claims

### Claim 1

A method for prognosing colorectal cancer risk of a human subject, comprising:
a) obtaining a first biological sample from the subject, wherein the first biological sample is a blood sample or a colorectal tissue sample;
b) analyzing the first biological sample from the subject for biallelic hypomethylation of a differentially methylated region of IGF2 having the sequence of SEQ ID NO:1; and
c) detecting biallelic hypomethylation at positions 87, 90, and 106 of SEQ ID NO:1, wherein the biallelic hypomethylation is indicative of an increased risk of developing colorectal cancer, thereby prognosing colorectal cancer risk of the subject.

### Claim 2 (depends on 1)

The method of claim 1, further comprising:
d) obtaining a second biological sample from the subject, wherein the second biological sample is a blood sample or a colorectal tissue sample;
e) analyzing the second biological sample for biallelic hypomethylation of a differentially methylated region of IGF2 having the sequence of SEQ ID NO:1; and
f) detecting biallelic hypomethylation at positions 87, 90, and 106 of SEQ ID NO:1, wherein biallelic hypomethylation at positions 87, 90, and 106 of SEQ ID NO:1 in the second biological sample is indicative of an increased risk of developing colorectal cancer.

### Claim 3 (depends on 2)

The method of claim 2, wherein the method further comprises performing routine colonoscopy or gastrointestinal endoscopy of the subject.

### Claim 4 (depends on 1)

The method of claim 1, wherein the method comprises analyzing genomic DNA from the first biological sample for biallelic hypomethylation of a differentially methylated region of IGF2.