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Assessment of disease risk by quantitative determination of epimutation in normal tissues

A disease risk, normal technology, used in the field of assays to assess disease risk, can solve problems such as no family pattern, and poor separation of germline and soma

Inactive Publication Date: 2007-01-17
ST VINCENTS HOSPITAL SYDNEY +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, this accounts for less than 1% of all breast cancers, with no family pattern consistent with a defect in a single gene in the vast majority of remaining cases
Germline and soma are not well separated in plants, however this may explain the relatively erratic presence of this epimutation over a period of at least 250 years

Method used

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  • Assessment of disease risk by quantitative determination of epimutation in normal tissues
  • Assessment of disease risk by quantitative determination of epimutation in normal tissues
  • Assessment of disease risk by quantitative determination of epimutation in normal tissues

Examples

Experimental program
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Embodiment 2

[0047] Materials and methods

[0048] Patient samples

[0049] In this study, 188 individuals with a personal history of cancer from St Vincent's Hospital (Sydney, NSW, Australia) and another 50 individuals from Victorian Clinical Genetics Service (Melbourne, VIC, Australia) were included. Of these individuals, 65 were mutation-negative after screening for harmful germline changes in hMSH2, hMLH1, or APC, while 18 had proliferative polyposis, and the remaining 155 had only a personal history of colorectal cancer.

[0050]The standard phenol chloroform method (Sambrook et al. 1989) was used to extract DNA from peripheral blood, histologically normal colonic mucosa, buccal membrane smears, hair follicles and sperm. In order to rule out the possibility of somatic cells contaminated in sperm, semen was sorted on FACSVantageDiVa (Becton Dickinson, Lexington, KY, USA) before DNA extraction. After staining with propidium iodide according to the described method (Schoell et al. 1999), spe...

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Abstract

An assay for assessing the risk of disease in an individual, wherein said assay comprises the steps of isolating a population of cells from normal tissue of said individual, and quantitatively determining the frequency of epimutation of a particular gene in said population of cells, wherein the epimutation of said gene is associated with said disease and said gene is other than one that is subject to normal parent of origin-specific expression. Preferably, the epimutation is DNA methylation of a tumour suprressor gene such as hMLH1, hMSH2, APC 1A, APC 1B and p16.

Description

Invention field [0001] The present invention relates to an assay for assessing the risk of disease (e.g. cancer) in an individual. Specifically, the present invention relates to assays for evaluating disease risks, including quantitatively determining the frequency of epimutations in specific genes in a cell population from normal tissues of individuals, wherein the epimutations of the genes are associated with one or more Disease related. Background of the invention [0002] Epigenetic modification and gene expression [0003] Epigenetic modifications are molecular events that lead to changes in gene function, which are mediated by factors rather than changes in DNA sequences. Epigenetic effects on gene function usually result in transcriptional silencing of genes, which may be maintained through mitosis, resulting in a clonal mode of transcriptional silencing. The probability that silencing may occur is between 0 and 1, resulting in a chimeric pattern of gene expression (or sil...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q2600/156C12Q2600/154C12Q1/6886
Inventor R·L·沃德D·I·K·马丁C·M·萨特
Owner ST VINCENTS HOSPITAL SYDNEY
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