Predictive model of risk of Breast Cancer

Title: Towards a predictive model of risk of breast cancer associated with mutations in BRCA1 or BRCA2, including Towards a genetic modifiers.

Duration: 2009-10

Contractor: SEOM - Spanish Society of Medical Oncology

Principal Investigator: Joan Brunet

Description: A key issue in medicine today is global knowledge of biological processes in normal state and its alteration in disease.

In this context, although it is known that approximately 20% of cases of breast cancer and ovarian in lesser extent, present family aggregation, high-penetrance mutations in BRCA1 or BRCA2 genes explain only a small fraction of these and with variable penetrance that is probable that exist common variants in other genes that modulate the risk of breast cancer in patients with germinal mutations in BRCA1 or BRCA2.

The identification of these variants and their corresponding genes and their effects not only individually but also together in the prediction of risk associated to BRCA1/BRCA2 mutations, is a major issue in oncology today. Accordingly, this project proposes the study of individual and combined effects of low-penetrance variants in the risk associated with BRCA1/BRCA2 mutations. To this end, we designed a strategy that bioinformatic predictions along with studies of variants in candidate genes will be evaluated in our series of BRCA1/BRCA2 mutation carriers and in case-control hospital-based. This proposal is the result of collaboration between different units of the Catalan Institute of Oncology and we propose that their findings could represent an important step in improving genetic counseling for breast cancer with family aggregation.