To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer Clinical Trial
Official title:
BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with
breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by
specific criteria for high-risk status including age at disease onset.
Secondary objective Considering the fact that BRCA testing is not a routine procedure in
Romania and mutation prevalence varies in different populations, we intend to look for the
founder mutation in our population, running full BRCA genes sequencing to a representative
population sample. This would allow a more targeted approach to real-life practice and would
ensure personalized solutions for every patient in need.
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