Methods for detecting mutations using primer extension for detecting disease

• US 6,498,012 B2
• Filed: 06/18/2001
• Issued: 12/24/2002
• Est. Priority Date: 01/10/1999
• Status: Expired due to Fees

• Current Assignee: Esoterix Genetic Laboratories LLC (Laboratory Corporation Of America Holdings)
• Original Assignee: Exact Sciences Corporation
• Inventors: Laken, Steven
• Primary Examiner(s): Fredman, Jeffrey
• Assistant Examiner(s): Chunduru, Suryaprabha
• Application Number:
  US09/883,717
• Publication Number:
  US 20020123052A1
• Time in Patent Office: 554 Days
• Field of Search: 435/6, 435/91.2
• US Class Current: 435/6.12
• CPC Class Codes: C12Q 1/6827 for detection of mutation or polymorphism
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 1/703 Viruses associated with AIDS
• CPC Class Codes: C12Q 2533/101 Primer extension
• CPC Class Codes: C12Q 2535/101 Sanger sequencing method, i.e. oligonucleotide sequencing using primer elongation and dideoxynucleotides as chain terminators
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: Y02A 90/10 Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Abstract

Methods of the invention comprise assays for markers indicative of cancer, precancer, and other diseases or disorders. Assays of the invention are preformed on heterogeneous samples obtained from patients by non-invasive or minimally-invasive methods. Such assays may be employed alone or in combination with other disease screening techniques.

Claims

1. A method for diagnosing colorectal cancer or precancer, the method comprising the steps of:

performing an assay to detect, in a stool sample from a patient, a nucleic acid mutation at the BAT-26 locus indicative of a colorectal lesion;

performing a sigmoidoscopy on said patient; and

diagnosing colorectal cancer or precancer in said patient if at least one of said assay and said sigmoidoscopy is positive.

2. The method of claim 1, wherein said assay is conducted prior to said sigmoidoscopy.

3. The method of claim 1, wherein said sigmoidoscopy is performed prior to said assay.

4. The method of claim 1, wherein said mutation is indicative of the presence of a colorectal lesion in the proximal colon.

5. The method of claim 1, wherein said sample includes a buffer comprising at least 100 mM EDTA.

8. The method of claim 1, wherein said mutation is selected from the group consisting of a nucleic acid insertion, a nucleic acid deletion, and a point mutation.

6. A method for localizing a colorectal lesion in a patient, the method comprising the steps of:

performing an assay to detect, in a stool sample from a patient, a nucleic acid mutation at the BAT-26 locus indicative of said colorectal lesion;

performing a sigmoidoscopy on said patient;

diagnosing a proximal colonic lesion if said assay is positive for the mutation and said sigmoidoscopy is negative; and

diagnosing a distal colonic lesion if said sigmoidoscopy is positive and said assay is negative for the mutation.

7. A method for diagnosing hereditary non-polyposis colorectal cancer, the method comprising the steps of:

performing an assay to detect, in a stool sample from a patient, a nucleic acid mutation at the BAT-26 locus indicative of said hereditary non-polyposis colorectal cancer;

performing a colonoscopy on said patient; and

diagnosing hereditary non-polyposis colorectal cancer if said assay is positive and said colonoscopy reveals an adenoma.