Breast cancer is the neoplasm with the highest incidence and mortality among
women in Lithuania. The aim of the study was to determine the mutational
incidence in BRCA1 and BRCA2 genes in high-risk breast and/or ovarian cancer
families. After written informed consent, 36 participants from Lithuanian
health science university hospital provided a blood sample for genetic
analysis. Molecular diagnostics was done for 6 BRCA1and BRCA2 mutations. From
36 tested subjects for BRCA1/BRCA2 mutations. Positive test for BRCA1/BRCA2
mutations test was found in 12 (33%) cases. Most common BRCA1 mutation was
5328insC - 6 (50%) cases, other mutations: 185delAG - 1 (8,3%), 300t>6(c61G)
- 4 (33,3%), 4153 del A - 1 (8,3%). All mutations were BRCA1, but none of the
women were positive for the analyzed BRCA2 mutation. The mean age when the
cancer was diagnosed in BRCA1 mutations group was 40.40?3.39 comparing with
the group without mutations - 43.29 ?2.52. Rates of BRCA1 and BRCA2 mutation
testing are increasing in young women with breast and ovarian cancer.
Detected mutations in BRCA1 contribute to up to one-third of the families
with breast and ovarian cancer in Lithuania.
Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families
