Objective
Background: Hereditary cancer is an important cause of morbidity and mortality and over the last 20 years, the majority of highly penetrant risk alleles such as BRCA1, BRCA2 in breast cancer and APC, MLH1, MSH2 in colon cancer have been identified. However, there are many men and women who have a strong family of cancer for whom we cannot provide answers because no mutation is found in known genes.
Objectives: i) To identify new candidate breast cancer susceptibility loci by an innovative combination of exome sequencing technology and genome-wide allele-specific expression analysis of BRCA1/2-negative women with strong family histories of BC. This approach will be complemented by exomic sequencing of carefully selected matched cohorts of women with unilateral and bilateral breast cancer on whom extensive demographic and clinical data is available. ii) To study selected gene candidates in more detail at the DNA, RNA and protein level. iii) To apply the knowledge gained in the genomic study of breast cancer to other cancer predisposition syndromes.
Significance: At present, the new combined approach of EST and ASE has several advantages over the alternative option of whole genome sequencing in the identification of rare functional variants; not only will EST plus ASE be cheaper and faster than a whole genome sequencing approach, but it will also allow us to explore the potentially unappreciated roles of allelic silencing (through regulatory or epigenetic variants) in cancer susceptibility, which would not be captured using genomic sequencing in isolation. We will commence the project with breast cancer families and then apply the same approach to other types of hereditary cancers. This proposal is focused on individuals who face a truly high risk for cancer but for whom predictive information is lacking and therefore this proposal is likely to have a direct translational benefit.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
- social sciences sociology demography mortality
- medical and health sciences clinical medicine oncology breast cancer
- medical and health sciences clinical medicine oncology colorectal cancer
- natural sciences biological sciences genetics RNA
- natural sciences biological sciences genetics genomes
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
ERC-2012-StG_20111109
See other projects for this call
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Host institution
CB2 1TN Cambridge
United Kingdom
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.