# US 2020/0399713 A1 · Methods and materials for assessing loss of heterozygosity

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- Number: US 2020/0399713 A1
- Document ID: US20200399713A1
- Status: Published application
- Kind: A1
- Application number: 17/013,380
- Filed: 2020-09-04
- Published: 2020-12-24
- Earliest claimed: 2010-06-18
- Assignees: Myriad Genetics, Inc.
- Applicants: Myriad Genetics, Inc.
- Inventors: Victor Abkevich; Alexander Gutin; Kirsten Timms; Jerry Lanchbury
- Web page: https://patentgrep.com/patent/US20200399713A1

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- A61P 35/00: Antineoplastic agents
- C12Q 1/6827: for detection of mutation or polymorphism
- G16B 20/00: ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B 20/10: Ploidy or copy number detection
- G16B 20/20: Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
- G16H 20/00: ICT specially adapted for therapies or health-improving plans, e.g. for handling prescriptions, for steering therapy or for monitoring patient compliance
- C12Q 2527/127: the enzyme inhibitor or activator used
- C12Q 2565/00: Nucleic acid analysis characterised by mode or means of detection
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/136: Screening for pharmacological compounds
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- C12Q 2600/16: Primer sets for multiplex assays
- 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
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16H: HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA

## Abstract

This document provides methods and materials involved in assessing samples (e.g., cancer cells) for the presence of a loss of heterozygosity (LOH) signature. For example, methods and materials for determining whether or not a cell (e.g., a cancer cell) contains an LOH signature are provided. Materials and methods for identifying cells (e.g., cancer cells) having a deficiency in homology directed repair (HDR) as well as materials and methods for identifying cancer patients likely to respond to a particular cancer treatment regimen also are provided.

## Claims

### Claim 1

A system for determining LOH status of a cancer cell of a cancer patient, comprising:
(a) a sample analyzer configured to produce a plurality of signals about genomic DNA derived from said cancer cell, wherein said signals identify the homozygous or heterozygous nature of loci of at least one pair of human chromosomes of said DNA, and wherein the cancer cell is selected from the group consisting of breast cancer cells, ovarian cancer cells, leukemia cancer cells, esophageal cancer cells, lung cancer cells, and prostate cancer cells, and
(b) a computer sub-system programmed to calculate, based on said plurality of signals, the number of Indicator LOH Regions in said at least one pair of human chromosomes,
wherein said Indicator LOH Regions are LOH regions that are in a pair of human chromosomes other than the human X/Y sex chromosome pair, and are characterized by LOH with a length of about 1.5 or more megabases but shorter than the length of the whole chromosome containing the LOH regions, and
wherein said computer sub-system is programmed to compare said number of Indicator LOH Regions to a reference number that is at least 6 to determine a likelihood that said cancer patient will respond to cancer treatment regimen comprising a DNA damaging agent, an anthracycline, a topoisomerase I inhibitor, radiation, or a PARP inhibitor.

### Claim 2 (depends on 1)

The system of claim 1, wherein said LOH regions or Indicator LOH Regions are determined in at least two, five, ten or 21 pairs of human chromosomes.

### Claim 3 (depends on 1)

The system of claim 1, wherein said total number of LOH regions or Indicator LOH Regions is 9, 15, 20 or more.

### Claim 4 (depends on 1)

The system of claim 1, wherein said first length is or said Indicator LOH Regions have a length of about 6, 12, or 15 or more megabases.

### Claim 5 (depends on 1)

The system of claim 1, wherein said reference number is at least 7, 8, 9, 10, 11, 12 or 13.

### Claim 6 (depends on 1)

The system of claim 1, wherein said at least one pair of human chromosomes is not human chromosome 17.

### Claim 7 (depends on 1)

The system of claim 1, wherein said Indicator LOH Regions are not in human chromosome 17.

### Claim 8 (depends on 1)

The system of claim 1, wherein said DNA damaging agent is a platinum-based chemotherapy drug, said anthracycline is epirubicin or doxorubicin, said topoisomerase I inhibitor is campothecin, topotecan, or irinotecan, or said PARP inhibitor is iniparib, olaparib or veliparib.
