Method of characterising a DNA sample

A sample and characterization technology, applied in biochemical equipment and methods, microbial determination/inspection, instruments, etc., can solve the problems of tumor cell apoptosis, lack of effective repair of double-strand breaks, etc.

Pending Publication Date: 2019-01-15
GENOME RES LTD
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

These treatments induce massive DNA double-strand breaks, forcing the apoptosis of tumor cells deficient in BRCA1 and BRCA2 function because they lack the ability to effectively repair double-strand breaks

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  • Method of characterising a DNA sample
  • Method of characterising a DNA sample
  • Method of characterising a DNA sample

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Embodiment Construction

[0017] A first aspect of the invention provides a method of characterizing a DNA sample from a tumor comprising the steps of: determining the presence or absence of a plurality of base substitution tags, rearrangement tags and one or more indels in the sample tags, and a copy number profile of the sample; generating a probability score based on the presence or absence of said plurality of base substitution tags, rearrangement tags, and indel tags in the sample, and the copy number profile of the sample; and Score, identifying whether the sample has a high or low likelihood of being homologous recombination (HR) deficient.

[0018] A second aspect of the invention provides a method of characterizing a DNA sample from a tumor comprising the steps of:

[0019] Do two or more of the following steps:

[0020] a) Determining the presence or absence of at least one base substitution tag in the sample

[0021] b) determining the presence or absence of at least one rearranged tag in ...

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Abstract

The invention provides a method of characterising a DNA sample obtained from a tumour, the method including the steps of: determining the presence or absence of a plurality of base substitution signatures, rearrangement signatures and indel signatures in the sample and copy number profiles for the sample; generating, from the presence or absence of said plurality of base substitution signatures, rearrangement signatures and indel signatures and the copy number profile for the sample, a probabilistic score; and based on said probabilistic score, identifying whether said sample has a high or lowlikelihood of being homologous recombination (HR) -deficient. Identification of a tumour as HR-deficient may be used to inform treatment choices, for example treatment with a PARP inhibitor or platinum therapy or an anthracycline.

Description

field of invention [0001] The present invention relates to methods for characterizing DNA samples. In particular, but not exclusively, it relates to methods for characterizing cancer properties based on DNA samples from tumors. Background of the invention [0002] Somatic mutations are present in all cells of the body and occur throughout life. They are the result of multiple mutational processes, including intrinsic slight distortions of the DNA replication machinery, exposure to exogenous or endogenous mutagens, enzymatic modification of DNA, and defective DNA repair. Different mutation processes produce unique combinations of mutation types, called "mutational signatures (MutationalSignatures)". [0003] Whole-genome sequencing (WGS) allows the exploration of all classes of somatic mutations in human cancer genomes, including base substitutions, insertions / deletions (indels), rearrangements / structural variations (SVs), and copy number variations (CNAs). To date, approx...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/00G16B20/10
CPCC12Q1/6886C12Q2600/156G16B20/00A61P35/00G16B20/10G16B40/00G16B30/00C12Q2537/165G16B10/00G16B50/00G16B5/00G16B25/10C12Q2600/106
Inventor S·尼克-扎因H·戴维斯D·格洛德齐艾克S·摩根内拉
Owner GENOME RES LTD
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