Methods for disease detection

• US 20070202513A1
• Filed: 09/07/2006
• Published: 08/30/2007
• Est. Priority Date: 09/08/1999
• Status: Active Grant

• Current Assignee: Esoterix Genetic Laboratories LLC (Laboratory Corporation Of America Holdings)
• Original Assignee: Exact Sciences Corporation
• Inventors: Shuber, Anthony
• Granted Patent: US 7,811,757 B2
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: C12Q 1/6881 for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574

Abstract

The present invention provides methods for detecting disease by analysis of a patient sample to determine the integrity of nucleic acids in the sample.

Claims

1. A method for determining the disease status of a patient, the method comprising the steps of:

determining the integrity of nucleic acids in a patient sample comprising shed cells or cellular debris; and

identifying said patient as having disease if intact nucleic acids are present in said sample in an amount greater than a predetermined threshold.

5. The method of claim 1, wherein said disease is cancer or pre-cancer.

7. The method of claim 1, wherein said nucleic acid is selected from the group consisting of K-ras, p53, apc, dcc, tumor suppressor genes, and oncogenes.

8. The method of claim 1, wherein said patient sample is selected from the group consisting of stool, sputum, pancreatic fluid, bile, lymph, blood, urine, cerebrospinal fluid, seminal fluid, saliva, breast nipple aspirate, and pus.

13. An isolated nucleic acid obtained by the method of claim 1.

2. A method for screening a patient for disease, the method comprising the steps of:

determining the integrity of nucleic acids in a patient sample comprising shed cellular debris; and

Identifying a positive screen as a sample in which the integrity of nucleic acids exceeds a predetermined threshold.

3. (canceled)

4. The method of claim 3, wherein said nucleic acid is a fragment having a molecular weight of at least 1.3 Kb.

6. The Method of claim 3, wherein said cancer is selected from the group consisting of colon cancer, lung cancer, esophageal cancer, prostate cancer, stomach cancer, pancreatic cancer, liver cancer, and lymphoma.

9. (canceled)

10. A method for screening a biological sample for disease, the method comprising the steps of:

selecting a plurality of genomic loci;

conducting an amplification reaction at each of said loci;

identifying a positive screen as a sample in which the number of loci producing an amplification product exceeds a predetermined threshold.

11. The method of claim 10, further comprising

assigning a first numerical score to each locus in which amplification takes place;

assigning a second numerical score to each locus in which amplification does not take place;

determining whether a total of said first numerical score exceeds a total of said second numerical score by a threshold amount, thereby to screen said sample for disease.

12. (canceled)