Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer and ovarian cancer in genetically related families. Approximately 5%-10% of breast cancer cases are heriditary breast cancer and 80% of which are caused by mutations in the BRCA1 or/and BRCA2 genes. Individuals who carry a mutation in either the BRCA1 or BRCA2 gene have an 87 percent risk of developing breast cancer by age 70 and elevated risk of developing a second cancer if having already been diagnosed with cancer.
Individuals suspected of having HBOC syndrome are characterized by genetic test. If individuals carry mutation in the BRCA1 or/and BRCA2, he/she will have the time to work with healthcare provider or physicians to make choices that feel right for him/her:
The test provides important information that can aid diagnosis and management, for instance whether to have conservative or radical surgery. Radiotherapy and chemotherapy may be also altered. For example, platinum based therapies are not standard treatment for breast cancer but can have utility in BRCA carriers
Germline or somatic mutations of BRCA1 or/and BRCA2 affect doctors' choice for PARP inhibitors like olaparib.
Identifying a caner predisposition genes mutation can provide a window of opportunity to implement surveillance and/or risk-reducing measures that mitigate or prevent cancer. For example, individuals who carry BRCA1 or/and BRCA2 mutations can take several prevention measures, such as getting checked earlier and more frequently, taking preventative surgery, preventative medication or genetic counseling before birth, to reduce cancer risk.
CloudHealth provides genetic test of all exons of BRCA1 and BRCA2 genes based on next-generation sequencing technology and assesses variants through bioinformatics analysis and the latest standards and guidelines for the interpretation of variants.
EDTA anticoagulative tube for 3-5 mL peripheral blood; mouth swabs for oral mucosa cells; saliva collection for saliva.
Turnaround time from sample receipt to report issue is 25 days.
Issuing report and providing genetic counseling.
The target region covers all coding exons of BRCA1 and BRCA2 genes.
Deep sequencing and rigorous analyzing process
Assessment of variants according to international authoritative database
According to NCCN Guidelines version 2017, considering BRCA1 and BRCA2 genetic test if: