BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
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.
Inclusion Criteria:

 Categories of patients to be recruited for complete sequencing of all BRCA1 and BRCA2 exons
 are subjects who have been diagnosed with breast or ovarion cancer and who are:

 1)40 years of age or younger 2)Triple negative breast cancer diagnosed before 50 years of
 age 3)Male with breast cancer 4)Bilateral breast cancer, first tumor diagnosed before 50
 years of age 5)2) + 50 years of age or younger with at least one (first degree) relative
 diagnosed with breast cancer at 50 years of age or younger or a first degree relative with
 ovarian cancer 6)of any age with 2 or more relatives with breast cancer 7)of any age with 2
 or more relatives with ovarian cancer 8)of any age with a personal history of ovarian
 cancer, tuba or peritoneal carcinoma 9)Two patients in same branch of the family, Prostate
 ca < 60 yr and 1st degree relative with BC < 50 yr 10)Two or more 1st and 2nd degree
 relatives of a patient with breast cancer, at least one of them <50 yr 11)of any age with a
 family history of male breast cancer or are at increased risk of having a BRCA mutation
 based on BRCAPRO or Tyrer-Cuzick models

 Exclusion Criteria:

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