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

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 and brca2 genes 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.

Clinical applications:
Preventive guidance - Detection of brca1 and brca2 testing 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.

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