Objective
Breast cancer affects more than 360,000 women per year in the EU and causes more than 90,000 deaths. Identification of women at high risk of the disease can lead to disease prevention through intensive screening, chemoprevention or prophylactic surgery. Breast cancer risk is determined by a combination of genetic and lifestyle risk factors. The advent of next generation sequencing has opened up the opportunity for testing in many disease genes, and diagnostic gene panel testing is being introduced in many EU countries. However, the cancer risks associated with most variants in most genes are unknown. This leads to a major problem in appropriate counselling and management of women undergoing panel testing.
In this project, we aim to build a knowledge base that will allow identification of women at high-risk of breast cancer, in particular through comprehensive evaluation of DNA variants in known and suspected breast cancer genes. We will exploit the huge resources established through the Breast Cancer Association Consortium (BCAC) and ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles). We will expand the existing datasets by sequencing all known breast cancer susceptibility genes in 20,000 breast cancer cases and 20,000 controls from population-based studies, and 10,000 cases from multiple case families. Sequence data will be integrated with in-silico and functional data, with data on other known risk factors, to generate a comprehensive risk model that can provide personalised risk estimates. We will develop online tools to aid the interpretation of gene variants and provide risk estimates in a user-friendly format, to help genetic counsellors and patients worldwide to make informed clinical decisions. We will evaluate the acceptability and utility of comprehensive gene panel testing in the clinical genetics context.
Fields of science
Programme(s)
Funding Scheme
RIA - Research and Innovation actionCoordinator
2333 ZA Leiden
Netherlands
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Participants (17)
CB2 1TN Cambridge
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28029 Madrid
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22100 Lund
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04109 Leipzig
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28020 Madrid
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75231 Paris
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17177 Stockholm
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6511 AA Nijmegen
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
76000 Rouen
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
3010 Melbourne
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84102 Salt Lake City Utah
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QLD 4006 Herston
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55905 Rochester
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G1V 0A6 Quebec
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50937 Koeln
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3400 Hillerod
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28006 Madrid
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