Gene BRCA1 is responsible in a cell for composition of protein, which repairs damages and helps retaining genetic information in the unchanged form in a cell. The test covers the analysis of 5 most frequent mutations of gene BRCA1 responsible for development of genetically conditioned breast and ovary cancers: C61G, 4153delA, 5382insC, 3819del5, C64R, which account for ca. 90% of mutations identified in that gene.
The test is appropriated for patients who have increased frequency of breast and ovary cancer occurrence in their families, and in particular:
- cancer occurrence at a young age, before the age of 50,
- ovary cancer, uterine tube cancer or peritoneum cancer,
- developing simultaneously breast cancer and ovary cancer or bilateral breast cancer,
- breast cancer of men
In Poland, in terms of genetic predisposition, the most frequently detected change is one of 5 mutations in gene BRCA1, which is inherited in an autosomal dominant way. The risk of developing neoplasm in carriers of mutation in BRCA1 is up to 80% in case of breast cancer and up to 60% in case of ovary cancer in the life cycle. Also the risk of developing other malignant neoplasm is increased.
Due to a younger age at which the neoplasm may develop and also its more malignant course, there is a need to identify carriers of gene mutation, which facilitates implementing appropriate prophylaxis for them at a very young age. It is optimal to test one's predisposition for breast cancer and ovary cancer as early as possible in the adult life, so that to have a possibility to take conscious decisions on one's diet, procreation, natural breast feeding, contraception methods and in the first place regular testing.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 10 business days