Breast Cancer Risk after Diagnostic Gene Sequencing
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.
- exploit the huge resources established through the Breast Cancer Association Consortium (BCAC) and ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles).
- expand the existing datasets by sequencing all known breast cancer usceptibility 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 personalized risk estimates.
- 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.
- evaluate the acceptability and utility of comprehensive gene panel testing in the clinical genetics context.
Publication on the use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries.
The BRIDGES Consortium / General Assembly meeting will be on September 12 (pm) and September 13 (am), at the San Martin Pinario Monastery in Santiago de Compestela Spain. The meeting will be in in conjunction with B-CAST, BCAC, ENIGMA, and CIMBA meetings later that week.
The BRIDGES Consortium has now a new partner CSIC (Agencia Estatal Consejo Superior Deinvestigationes Cientificas). Eladio A. Velasco Sampedro, is the PI and working in the department of Splicing and genetic susceptibility to cancer. He will be involved in the WP4...