# US 7,407,755 B2 · Determining a predisposition to cancer

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- Number: US 7,407,755 B2
- Document ID: US7407755B2
- Status: Granted
- Kind: B2
- Application number: 11/037,657
- Filed: 2005-01-18
- Published: 2005-09-01
- Granted: 2008-08-05
- Earliest claimed: 2004-01-15
- Inventors: Jan Lubiñski; Janina Suchy; Grzegorz Kurzawski; Tadeusz Dêbniak; Cezary Cybulski
- Web page: https://patentgrep.com/patent/US7407755B2

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- 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

## Abstract

The present invention relates to methods and kits for determining a predisposition and surveillance protocols for developing cancer of various sites due to specific mutation in at least one allele of CHEK2 gene and/or at least one allele of NOD2 gene and/or at least one allele of CDKN2A gene.

## Claims

### Claim 1

A method for detecting in a human subject a predisposition to breast, stomach, or thyroid cancer comprising obtaining a DNA sample from the human subject, and determining whether an IVS2+1G>A alteration is present in the CHEK2 gene of the human subject, wherein presence of the IVS2+1G>A alteration in the CHEK2 gene is indicative of a predisposition to breast, stomach, or thyroid cancer.

### Claim 2 (depends on 1)

The method of claim 1, wherein the alteration is present in a single allele of the CHEK2 gene.

### Claim 3 (depends on 1)

The method of claim 1, wherein the alteration is present in two alleles of the CHEK2 gene.

### Claim 4 (depends on 1)

The method of claim 1, wherein the alteration is detected by PCR, ligase chain reaction, restriction digestion, direct sequencing, nucleic acid amplification techniques, microchips, hybridization techniques or immunoassays.

### Claim 5 (depends on 1)

The method of claim 1, wherein the predisposition is an inherited predisposition.

### Claim 6 (depends on 1)

The method of claim 1, wherein the DNA sample is from blood.

### Claim 7 (depends on 1)

The method of claim 1, wherein the DNA sample is from leukocytes.

### Claim 8

A method for detecting in a human subject a predisposition to colon or kidney cancer comprising obtaining a DNA sample from the human subject, and determining the presence of a I157T alteration in the CHEK2 gene in said DNA sample, wherein presence of the I157T alteration in the CHEK2 gene is indicative of a predisposition to colon or kidney cancer.

### Claim 9 (depends on 8)

The method of claim 8, wherein the alteration is present in a single allele of the CHEK2 gene.

### Claim 10 (depends on 8)

The method of claim 8, wherein the alteration is present in two alleles of the CHEK2 gene.

### Claim 11 (depends on 8)

The method of claim 8, wherein the alteration is detected by PCR, ligase chain reaction, restriction digestion, direct sequencing, nucleic acid amplification techniques, microchips, hybridization techniques or immunoassays.

### Claim 12 (depends on 8)

The method of claim 8, wherein the predisposition is an inherited predisposition.

### Claim 13 (depends on 8)

The method of claim 8, wherein the DNA sample is from blood.

### Claim 14 (depends on 8)

The method of claim 8, wherein the DNA sample is from leukocytes.