Detecting colorectal neoplasia

Patent metadata

Field	Value
Publication number	US-10370726-B2
Application number	US-201715487124-A
Country	US
Kind code	B2
Filing date	Apr 13, 2017
Priority date	Apr 14, 2016
Publication date	Aug 6, 2019
Grant date	Aug 6, 2019

Abstract

Provided herein is technology for colorectal neoplasia screening and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of colorectal neoplasia in 1) individuals at, older or younger than 50 years of age, or 2) individuals having Lynch Syndrome.

First claim

We claim:

1. A method comprising:
extracting genomic DNA from a biological sample of a human individual suspected of having or having colorectal neoplasia, wherein the biological sample is a stool sample, a plasma sample, or a blood sample,
treating the extracted genomic DNA with bisulfite,
amplifying the bisulfite-treated genomic DNA using primers specific for nine or fewer DNA markers at least including primers specific for USP44, primers specific for OPLAH, and primers specific for LRRC4,
measuring the methylation level of the CpG site for the nine or fewer DNA markers at least including USP44, OPLAH, and LRRC4 by methylation-specific PCR, quantitative methylation-specific PCR, methylation-sensitive DNA restriction enzyme analysis, or bisulfite genomic sequencing PCR.

2. The method of claim 1 , wherein the biological sample is a tissue sample, a plasma sample, or a blood sample.

3. The method of claim 1 , wherein amplifying the bisulfite-treated genomic DNA using primers specific for USP44 is a set of primers that specifically binds at least a portion of a genetic region comprising chromosome 12 coordinates 95942010-95942240.

4. The method of claim 1 ,
wherein amplifying the bisulfite-treated genomic DNA using primers specific for OPLAH is a set of primers that specifically binds at least a portion of a genetic region comprising chromosome 8 coordinates 145106349-145106456.

5. The method of claim 1 ,
wherein amplifying the bisulfite-treated genomic DNA using primers specific for LRRC4 is a set of primers that specifically binds at least a portion of a genetic region comprising chromosome 7 coordinates 127671993-127672310.

Assignees

• Mayo Found Medical Education & Res

Inventors

• Ahlquist David A
• Taylor William R
• Kisiel John B
• Yab Tracy C
• Mahoney Douglas W

Classifications

• C12Q2600/156

  Polymorphic or mutational markers · CPC title

• G16H50/20

  for computer-aided diagnosis, e.g. based on medical expert systems · CPC title

• C12Q1/6886 Primary

  for cancer (immunoassay for cancer G01N33/575) · CPC title

• C12Q2600/16

  Primer sets for multiplex assays · CPC title

• C12Q2600/154

  Methylation markers · CPC title