# US 2025/0146084 A1 · Colorectal cancer screening method and device

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- Number: US 2025/0146084 A1
- Document ID: US20250146084A1
- Status: Published application
- Kind: A1
- Application number: 19/015,010
- Filed: 2025-01-09
- Published: 2025-05-08
- Earliest claimed: 2015-04-29
- Assignees: Geneoscopy, LLC
- Applicants: Geneoscopy, Inc.
- Inventors: Erica BARNELL; Marianne LIGON; Yiming KANG
- Web page: https://patentgrep.com/patent/US20250146084A1

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/112: Disease subtyping, staging or classification
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/158: Expression 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

Provided herein are compositions and methods for diagnosis and treatment of colorectal cancer. Methods and kits for detection of colorectal cancer biomarker genes in a stool sample are provided.

## Claims

### Claim 1

A method of detecting colorectal cancer in a subject, the method comprising:
a) measuring the level of expression of two or more colorectal cancer biomarker genes selected from any of the colorectal cancer biomarker genes listed in Table 1 (Panel A) in a biological sample from the subject;
b) comparing the measured expression level of the two or more colorectal cancer biomarker genes in the sample with the measured expression level of the two or more colorectal cancer biomarker genes in a control sample, wherein a difference in the measured expression level of the two more genes in the biological sample relative to the measured expression level of the two or more genes in the control sample indicates that the subject has colorectal cancer.

### Claim 2 (depends on 1)

The method of claim 1, wherein the two or more colorectal cancer biomarker genes are selected from the colorectal cancer biomarker genes listed in Panel B, Panel C, Panel D, or Panel E.

### Claim at position 3

3-7. (canceled)

### Claim 8 (depends on 1)

The method of claim 1, wherein the biological sample is a stool sample.

### Claim 9 (depends on 1)

The method of claim 1, wherein the expression level comprises expression of an RNA selected from the group consisting of total RNA, mRNA, ncRNA, rRNA, smRNA, and snoRNA.

### Claim 10 (depends on 1)

The method of claim 1, wherein the measuring step comprises microarray analysis, reverse transcription polymerase chain reaction (RT-PCR), or nucleic acid sequencing.

### Claim at position 7

11-13. (canceled)

### Claim 14

A method of determining whether a subject is at risk for colorectal cancer, the method comprising:
a) measuring the level of expression of two or more colorectal cancer biomarker genes selected from any of the colorectal cancer biomarker genes listed in Table 1 (Panel A) in a biological sample from the subject;
b) comparing the measured expression level of the two or more colorectal cancer biomarker genes in the sample with the measured expression level of the two or more colorectal cancer biomarker genes in a control sample, wherein a difference in the measured expression level of the two or more genes in the biological sample relative to the measured expression level of the two or more genes in the control sample indicates that the subject is at risk for colorectal cancer.

### Claim 15 (depends on 14)

The method of claim 14, wherein the two or more colorectal cancer biomarker genes are selected from the colorectal cancer biomarker genes listed in Panel B, Panel C, Panel D, or Panel E.

### Claim at position 10

16-20. (canceled)

### Claim 21 (depends on 14)

The method of claim 14, wherein the biological sample is a stool sample.

### Claim 22 (depends on 14)

The method of claim 14, wherein the expression level comprises expression of an RNA selected from the group consisting of total RNA, mRNA, tRNA, rRNA, ncRNA, smRNA, and sno RNA.

### Claim 23 (depends on 14)

The method of claim 14, wherein the measuring step comprises microarray analysis, reverse transcription polymerase chain reaction (RT-PCR), or nucleic acid sequencing.

### Claim at position 14

24-26. (canceled)

### Claim 27

A method of selecting a clinical plan for a subject having or at risk for colorectal cancer, the method comprising:
a) measuring the level of expression of two or more colorectal cancer biomarker genes selected from any of the colorectal cancer biomarker genes listed in Table 1 (Panel A) in a biological sample from the subject;
b) comparing the measured expression level of the two or more colorectal cancer biomarker genes in the sample with the measured expression level of the two or more colorectal cancer biomarker genes in a control sample, wherein a difference in the measured expression level of the two or more genes relative to the measured expression level of the two or more genes in the control sample indicates that the subject has or is at risk for colorectal cancer; and
c) selecting a clinical plan based on step b.

### Claim 28 (depends on 27)

The method of claim 27, wherein the two or more colorectal cancer biomarker genes are selected from the colorectal cancer biomarker genes listed in Panel B, Panel C, Panel D, or Panel E.

### Claim at position 17

29-33. (canceled)

### Claim 34 (depends on 27)

The method of claim 27, wherein the biological sample is a stool sample.

### Claim 35 (depends on 27)

The method of claim 27, wherein the expression level comprises expression of an RNA selected from the group consisting of total RNA, mRNA, tRNA, rRNA, ncRNA, smRNA, and sno RNA.

### Claim 36 (depends on 27)

The method of claim 27, wherein the measuring step comprises microarray analysis, reverse transcription polymerase chain reaction (RT-PCR), or nucleic acid sequencing.

### Claim 37

(canceled)

### Claim 38 (depends on 27)

The method of claim 27, wherein the clinical plan comprises a diagnostic procedure or a treatment.

### Claim 39 (depends on 38)

The method of claim 38, wherein the diagnostic procedure comprises a fecal occult blood test, a fecal immunochemical test, or a colonoscopy.

### Claim 40 (depends on 38)

The method of claim 38, wherein the treatment comprises surgery, chemotherapy, radiation therapy, targeted therapy, or immunotherapy.

### Claim 41 (depends on 40)

The method of claim 40, wherein the chemotherapy comprises administration of 5-fluorouracil, leucovorin, capecitabine, oxaliplatin, irinotecan or a combination thereof.

### Claim 42 (depends on 40)

The method of claim 40, wherein the targeted therapy comprises administration of bevacizumab (anti-VEGF), ramuciramab (anti-VEGFR2), aflibercept, regorafenib, cetuximab (anti-EGFR), panitumumab, tripfluridine-tipiracil or a combination thereof.

### Claim at position 27

43-45. (canceled)
