# US 7,745,133 B2 · Determining a predisposition to cancer

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- Number: US 7,745,133 B2
- Document ID: US7745133B2
- Status: Granted
- Kind: B2
- Application number: 11/999,641
- Filed: 2007-12-05
- Published: 2009-08-06
- Granted: 2010-06-29
- Earliest claimed: 2003-06-12
- Assignees: Pomeranian Academy of Medicine
- Inventors: Cezary Cybulski; Jan Lubinski; Bohdan Gorski; Bartlomiej Gliniewicz; Andrzej Sikorski; Tomasz Huzarski; Tadeusz Debniak; Jacek Gronwald; Tomasz Byrski
- Web page: https://patentgrep.com/patent/US7745133B2

## 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 for developing cancer, e.g., prostate and/or breast cancer, due to a germline mutation of a NBS1 gene. The present invention also relates to surveillance protocols for developing cancer, e.g., prostate and/or breast cancer, due to germline mutation of a NBS1 gene.

## Claims

### Claim 1

A method for detecting a predisposition to breast cancer in a human subject, comprising detecting in a biological sample from the human subject germline alteration 657del5 in the sequence of a NBS1 gene, and associating the alteration with a predisposition to breast cancer in the human subject, thereby detecting the predisposition.

### Claim 2 (depends on 1)

The method of claim 1, wherein the breast cancer is invasive breast cancer of the lobular subtype.

### Claim 3 (depends on 1)

The method of claim 1, further comprising performing mammography on the subject to detect breast cancer.

### Claim 4 (depends on 1)

The method of claim 1, wherein the alteration is present in the sequence of a single allele of the NBS1 gene.

### Claim 5 (depends on 1)

The method of claim 1, wherein the alteration is present in the sequence of two alleles of the NBS1 gene.

### Claim 6 (depends on 1)

The method of claim 1, wherein the human is of Slavic origin.

### Claim 7 (depends on 1)

The method of claim 1, wherein the alteration is detected by microchip, ASO PCR, SSCP, direct sequencing, ASA, or RFLP-PCR.

### Claim 8 (depends on 1)

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

### Claim 9 (depends on 1)

The method of claim 1, wherein the biological sample is biological material of any kind.

### Claim 10 (depends on 9)

The method of claim 9, wherein the biological sample is blood.

### Claim 11 (depends on 1)

The method of claim 1, wherein the biological sample comprises leukocytes.

### Claim 12 (depends on 1)

The method of claim 1, wherein the human subject is female.