Klin Onkol 2006; 19(Suppl): 55-57.
Summary
Inherited mutations in BRCA1 and BRCA2 are the major reason for the genetic predisposition to breast and ovarian cancer. Molecular genetic analysis of these two genes has been performed in laboratory of Department of Cancer Epidemiology and Genetics in Masaryk Memorial Cancer Institute since 1999. Untill October 2005 there have been investigated 470 high-risk breast and breast/ovarian cancer families, 38 patients with bilateral breast or ovarian cancer or both, 109 women diagnosed with early-onset sporadic breast/ovarian cancer below 40 years, and 14 men diagnosed with breast cancer. Concerning disease causing mutations, 64 different germline mutations were found in 194 patients, 30 in BRCA1 gene and 34 in BRCA2 gene. Moreover, predictive testing of 486 symptomatic and nonsymptomatic relatives has been done. Preventive care was offered to all mutation carriers in a specialised clinic.
