IP Library Granted Patent US 12,209,288
Granted Patent B2
US 12,209,288 · App. 18/356,906 · Granted Jan 28, 2025

Methods for sequencing samples

Inventors: Dietrich Stephan (San Francisco, CA); Vern Norviel (San Francisco, CA); Janet Warrington (Los Altos, CA); Doug Dolginow (Basalt, CO)
Assignee: Aqtual, Inc.
C12Q1/6886G01N33/57484C12Q2600/106C12Q2600/112C12Q2600/136C12Q2600/142C12Q2600/154C12Q2600/156C12Q2600/158C12Q2600/16
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Quick Facts
Patent No.
US 12,209,288
App. No.
18/356,906
Granted
Jan 28, 2025
Kind
B2
Abstract

Personalized medicine involves the use of a patient's molecular markers to guide treatment regimens for the patient. The scientific literature provides multiple examples of correlations between drug treatment efficacy and the presence or absence of molecular markers in a patient sample. Methods are provided herein that permit efficient dissemination of scientific findings regarding treatment efficacy and molecular markers found in patient tumors to health care providers.

Claims (22)

1. A method comprising:

(a) obtaining a cell-free deoxyribonucleic acid (DNA) sample from a subject wherein said cell-free DNA sample comprises molecular markers;

(b) detecting sequences of a panel of said molecular markers, wherein said molecular markers comprise: (1) Receptor Tyrosine Kinase KIT Proto-Oncogene (KIT); (2) Epidermal Growth Factor Receptor (EGFR) gene; and (3) another molecular marker selected from the group consisting of GTPase KRAS Proto-Oncogene (KRAS), Serine/Threonine Kinase B-Raf Proto-Oncogene (BRAF), a microsatellite sequence, chromosome 18q allelic loss, thymidylate synthase gene, and DNA Topoisomerase I (TOP1) gene; and

(c) providing a cancer treatment option in a report based on said sequences of said panel of said molecular markers.

2. The method of claim 1 , wherein said subject is suspected of having cancer.

3. The method of claim 1 , wherein said subject has a cancer.

4. The method of claim 3 , wherein said subject has a lung cancer, a non-small-cell lung cancer, a breast cancer, a prostate cancer, a gastric cancer, a head and neck cancer, an advanced gastric adenocarcinoma, a squamous cell carcinoma, a pancreatic adenocarcinoma, Hodgkin's Disease, non-Hodgkin's lymphoma; a testicular carcinoma, a colon cancer, a rectal cancer, an esophageal cancer, a hepatocellular carcinoma, a cholangiocarcinoma, a chronic myeloid leukemia, a chronic lymphocytic leukemia, a small lymphocytic lymphoma, or a follicular lymphoma.

5. The method of claim 1 , wherein said cell-free DNA sample comprises blood.

6. The method of claim 1 , wherein said cell-free DNA sample comprises genomic DNA.

7. The method of claim 1 , further comprising detecting a presence or absence of a substitution, an insertion, a deletion, a rearrangement, a de novo mutation, a nonsense mutation, a missense mutation, a silent mutation, a frameshift mutation, a gene amplification, an interstitial deletion, a chromosomal inversion, a loss of heterozygosity, a loss of function mutation, a gain of function mutation, or a dominant negative mutation in said sequences of said panel of said molecular markers.

8. The method of claim 1 , further comprising detecting a presence or absence of a point mutation, a single nucleotide polymorphism, a copy number variation, or a chromosomal translocation in said sequences of said panel of said molecular markers.

9. The method of claim 1 , further comprising, prior to (b), amplifying said panel of said molecular markers from said cell-free DNA sample.

10. The method of claim 1 , wherein said cancer treatment option comprises imatinib, cetuximab, panitumumab, adjuvant therapy, 5-fluorouracil (5-FU), or temzolomide.

11. The method of claim 1 , wherein said subject has had a relapse of a cancer.

12. The method of claim 1 , wherein said KIT has or encodes an activating mutation.

13. The method of claim 1 , wherein said KRAS has a mutation in exon 2.

14. The method of claim 1 , wherein said BRAF encodes a V600E mutation.

15. The method of claim 1 , wherein said microsatellite sequence has low-frequency microsatellite instability.

16. The method of claim 1 , wherein said microsatellite sequence has high-frequency microsatellite instability.

17. The method of claim 1 , wherein a copy number of said EGFR gene is increased relative to normal.

18. The method of claim 1 , wherein said EGFR gene has mutations in exons 18-21.

19. The method of claim 1 , wherein (b) comprises massively parallel DNA sequencing.

Assignments (5)
CHANGE OF NAME Recorded Mar 7, 2024
From: BLOODQ, INC.
To: AQTUAL, INC.
Reel/Frame 066761/0440 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Mar 5, 2024
From: AUEON, INC.
To: BLOODQ, INC.
Reel/Frame 066658/0277 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Mar 1, 2024
From: TOMA BIOSCIENCES, INC.
To: AUEON, INC.
Reel/Frame 066623/0571 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Feb 28, 2024
From: AUEON, INC.
To: TOMA BIOSCIENCES, INC.
Reel/Frame 066595/0365 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Feb 27, 2024
From: STEPHAN, DIETRICH; NORVIEL, VERN; WARRINGTON, JANET; DOLGINOW, DOUG
To: AUEON, INC.
Reel/Frame 066580/0885 →
Continuity (10)
Continuation 16154307 · Oct 8, 2018
Continuation 15183655 · Jun 15, 2016
Division 14927254 · Oct 29, 2015
Continuation 14075996 · Nov 8, 2013
Continuation 13060425
Provisional Application 61231287 · Aug 4, 2009
Provisional Application 61173179 · Apr 27, 2009
Provisional Application 61155477 · Feb 25, 2009
Provisional Application 61094855 · Sep 5, 2008
Related Publication 20230407408A1 · Dec 21, 2023
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