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Genetic Testing for Hereditary Breast/Ovarian Cancer(BRCA1/2) CapitalBio

According to research reports, individuals with inherited cancer genes have a higher risk of cancer than ordinary people. About 7% of breast cancer and 1%-15% of ovarian cancer are caused by BRCA1/BRCA2 gene mutations. In families with a high incidence of breast and ovarian cancer, 80% of patients have mutations in the BRCA1/BRCA2 gene, and this gene is inherited in an autosomal dominant manner in the population.


This test detects the entire coding region of BRCA1/BRCA2 genes, and 20bp intron regions upstream and downstream of the coding region, in addition to known mutation hotspot genes, unknown mutations can be detected.


genetic testing for hereditary breast ovarian cancer

Clinical applications:

Preventive guidance - Detection of BRCA1/BRCA2 gene mutations can provide references for disease risk assessment to high-risk groups or healthy people, reduce the risk of disease through preventive treatment, and provide references for disease risk assessment to relatives of mutation carriers.

Medication guidance - Breast cancer and ovarian cancer patients with BRCA1/BRCA2 mutations are more sensitive to platinum and PARP inhibitor drugs (Olaparib), A large proportion of patients with BRCA1/ BRCA2 gene mutations are triple-negative breast cancers, which are more sensitive to platinum-based chemotherapy.

Prognostic assessment - BRCA1/BRCA2 gene mutation carriers have a relatively high risk of ipsilateral breast recurrence or contralateral breast cancer. BRCA1/BRCA2 gene mutations are relative contraindication to breast-conserving therapy.


Specification of Genetic Testing for Hereditary Breast/Ovarian Cancer(BRCA1/2)

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