Colombian Registry of Genetic Variants in Patients with Hereditary Breast and/or Ovarían Cáncer

Project: Research

Project Details

Description

Mutations in the BRCA1 and BRCA2 genes are the main causes of developing hereditary breast and/or ovarian cancer. These diseases require the implementation of early diagnosis techniques for successful treatment in the patient and strategies for prevention within their family. However, a positive result implies measures that are difficult for people carrying the mutation to take. Therefore, patients need valid information to make the best decisions, doctors need to know the mutations that have been identified, and researchers need information about BRCA genes and clinical associations, in order to filter out the predictive values from gene testing, the potential of allele-specific therapies, and in the future, an understanding of disease progression. The development of effective strategies to reduce the risk of developing breast and ovarian cancer in carriers of mutations in the BRCA genes has made genetic analysis a fundamental tool in management and prevention in women with a family history of the disease. Approximately 5¿10% of all cases of breast and/or ovarian cancer are caused by mutations in the BRCA1 and BRCA2 (BRCA) genes. A person carrying the mutation in one of the genes is 50¿80% more likely to be at risk of developing one of these two diseases by the time they reach 70 years of age. In addition, mutation carriers who have been diagnosed have a significantly higher risk of developing a second cancer later in life. A positive result signifies an increased risk of developing breast and/or ovarian cancer, in which case the indicated course of action includes greater vigilance (more frequent physical examinations and mammograms), chemoprevention, prophylactic surgery and changes in lifestyle. Additionally, ascertaining whether a patient has mutations in BRCA genes involves looking at the family background to identify healthy carriers who are able to immediately adopt preventive measures. In this country we do not have a database that provides information about the most significant mutations circulating here for hereditary breast and ovarian cancer: BRCA1 and BRCA2.
StatusFinished
Effective start/end date01/12/2015/04/22

Project funding

  • National
  • ASTRAZENECA COLOMBIA SAS