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Methods for breast cancer risk assessment

a breast cancer and risk assessment technology, applied in the field of methods for breast cancer risk assessment, can solve the problem that the gene linkage study has not identified any further links

Inactive Publication Date: 2011-12-01
GENETIC TECHNOLOGIES LIMTIED
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

[0023]Surprisingly, the inventors have found that combining single nucleotide polymorphism analysis with clinical risk assessment provides a clear benefit in those women who have had a previous biopsy of the breast. Thus, in a preferred embodiment, the female has had a biopsy of the breast.
[0024]The inventors have also found that combining single nucleotide polymorphism analysis with clinical risk assessment provides a clear benefit in the possible re-classification of women whose clinical risk assessment indicates that they have a risk of developing breast cancer. Thus, in another preferred embodiment the results of the clinical risk assessment indicate that the female should be subjected to more frequent screening and / or prophylactic anti-breast cancer therapy.

Problems solved by technology

Secondly, despite extensive efforts over the past nine years, genetic linkage studies have not identified any further linked loci.
Thirdly, segregation analyses of large series of breast cancer families have found, after adjusting for BRCA1 and BRCA2, no evidence for a further major dominant breast cancer susceptibility allele.

Method used

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  • Methods for breast cancer risk assessment

Examples

Experimental program
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Effect test

example 1

Evaluation of a SNP Panel for Breast Cancer Risk Assessment in a Nested Case-Control Study from the Women's Health Initiative

Rationale

[0151]The extent to which recently discovered breast cancer (BCa)-associated genetic variation can assist in BCa risk assessment is unclear. The effect of the addition of risk information from a panel of 7 BCa-associated SNPs on risk stratification offered by the Gail Model was assessed.

Methods

[0152]1664 women who developed BCa after randomization in the WHI Clinical Trial and 1636 matched BCa-free controls were examined. Controls were matched on the basis of baseline age, self-reported ethnicity, clinical trial participation, years since randomization, and hysterectomy status. Seven SNPs from the published literature meeting rigorous criteria for genome-wide significance and replication were chosen to be genotyped (7-SNP Panel). To model SNP risk across the 7 selected panel SNPs, previously reported effect size estimates were used along with a multip...

example 2

Use of SNPs for Breast Cancer Risk Assessment: 10-SNP Model SNP Genotyping

[0159]Ten (10) SNPs that have been reported to be associated with breast cancer with high statistical significance across multiple large sample sets were identified and are shown in Table 9.

[0160]Genotyping of 7 of the 10 SNPs is described in Example 1. The remaining 3 SNPs (rs4973768, rs6504950, rs11249433) were genotyped on the Sequenom MassArray platform. Two assays were designed in opposing orientations for each of the SNPs. Two of these SNPs (rs6504950 and rs11249433) had previously been genotyped on the same samples on oligonucleotide arrays. Samples that had performed poorly in previous Sequenom genotyping also performed poorly in this dataset, with agreement of less than 90% on these two SNPs, compared to 99.9% for the other samples. As a result, data for this same set of problematic samples was excluded.

[0161]Table 10 summarizes genotyping results for the 10 breast cancer associated SNPs.

TABLE 9Replic...

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Abstract

The present invention relates to methods and systems for assessing the overall risk of a human female subject for developing a breast cancer phenotype. In particular, the present invention relates to combining clinical risk assessment and genetic risk assessment to improve risk analysis.

Description

FIELD OF THE INVENTION[0001]The present invention relates to methods and systems for assessing the overall risk of a human female subject for developing a breast cancer phenotype. In particular, the present invention relates to combining clinical risk assessment and genetic risk assessment to improve risk analysis.BACKGROUND OF THE INVENTION[0002]Breast cancer, like other common cancers, shows familial clustering. Numerous epidemiological studies have demonstrated that, overall, the disease is approximately twice as common in first degree relatives of breast cancer patients. Family studies, and particularly twin studies, suggest that most if not all of this clustering has a genetic basis. For example, Peto and Mack (2000) estimated that the risk of breast cancer in the MZ twin of an affected woman was approximately four-fold greater than the risk to a sister of a case.[0003]Several breast cancer susceptibility genes have already been identified, most importantly BRCA1 and BRCA2. Mut...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68C40B30/04G06F19/10
CPCC12Q1/6886C12Q2600/106C12Q2600/172C12Q2600/156C12Q2600/112A61P35/00
Inventor HINDS, DAVID A.WALSER, BRYAN
Owner GENETIC TECHNOLOGIES LIMTIED
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