BRCA Comprehensive Panel (Germline gene sequencing+ deletion/duplication)
BRCA Comprehensive Panel (Germline gene sequencing+ deletion/duplication)
The BRCA comprehensive panel is a genetic test that examines the BRCA1 and BRCA2 genes for mutations associated with an increased risk of breast, ovarian, and other cancers. It includes germline gene sequencing, analysing the DNA code for specific variations, and detection of larger deletions or duplications in these genes. This comprehensive approach enhances the accuracy of identifying mutations that may contribute to hereditary cancer risk.
Thus, getting this panel test done is recommended to receive a personalized risk assessment, prevention strategies, and potential interventions for individuals with an increased genetic susceptibility to certain cancers
This test is also known as Breast Cancer Susceptibility Genes 1 & 2 Testing, BRCA1 and BRCA2 Testing, BRCA1/2 Testing, Germline BRCA Testing
What is the BRCA comprehensive panel used for?
The BRCA comprehensive panel is used
To evaluate and diagnose individuals with a personal or family history of certain cancers such as breast cancer, ovarian cancer, etc.
To detect mutations within genes linked to increased Hereditary Breast and Ovarian Cancer (HBOC) syndrome risk
To determine eligibility for therapies such as polyadenosine diphosphate-ribose polymerase (PARP) inhibitors in specific cancer cases
To diagnose other types of cancers such as prostate and pancreatic cancer
Who should get tested?
The BRCA comprehensive panel is recommended to be performed frequently for individuals who are at high risk of getting breast and ovarian cancer. The breast and ovarian cancer risk can be increased by various contributing factors such as
Women aged over 50 years
Smoking
Having dense breasts
Abnormal reproductive history
Previous treatment with radiation
Family history of breast or ovarian cancer
Family history of genetic mutations
Exposure to certain drugs (E.g. Diethylstilbestrol)
Test preparation
The BRCA comprehensive panel is performed using various samples such as blood, saliva, and cheek swabs. The following are the various preparatory steps for each type of test:
· Blood sample: For a blood sample, there is no need for special preparation. You can eat and drink as usual before the test.
· Saliva sample: If you are providing a saliva sample, it is important to follow instructions from your healthcare provider or lab. You might be instructed to avoid eating, drinking, or smoking for a period of 30 minutes prior to the test.
Cheek swab: While providing a cheek swab, you will receive directions on rinsing and washing your mouth before the test
Interpretation of the Test Results
Test results will indicate the presence or absence of harmful mutations. Occasionally, the test may detect a mutation whose implications are not fully understood, this is termed as variant of uncertain significance (VUS).
Negative results
Negative results indicate the absence of known harmful mutations in BRCA1 or BRCA2 genes. If a harmful variant is known in your family but not detected in your sample, it may be reported as a "true negative." If there is no family history of harmful gene mutations and your test is negative, it might be labelled as "uninformative."
Positive results
Positive results indicate the presence of a known harmful gene mutation, often described as pathogenic on the report, meaning disease-causing. Although the presence of this mutation does not guarantee the development of hereditary cancer, it does increase the risk.
Variants of uncertain significance (VUS)
VUS are mutations in genes not previously linked to higher cancer risk. Individuals undergoing multigene panel testing may commonly receive this result. Many VUS are eventually reclassified as negative, though a few may be found to be harmful over time.
FAQs
How is the sample collected for the BRCA comprehensive panel?
The sample collection process for the BRCA comprehensive panel may vary depending on the type of sample:
1) For a blood sample: Your healthcare provider will draw blood from a vein in your arm, which typically takes less than five minutes.
2) For a saliva sample: You will be required to provide a saliva sample by either spitting into a tube or using a cotton ball or pad to collect your saliva. It usually takes 2 to 5 minutes to fill the tube. A preservative is added to ensure the sample remains viable for testing until it reaches the lab.
For a cheek swab: Your healthcare provider will gently collect cells from the inside of your cheek using a small spatula-like instrument or foam brush. Alternatively, they may provide you with the instrument and guide you on how to collect the sample yourself
What are the risks associated with the BRCA comprehensive panel?
This panel is relatively safe. There might be slight soreness or tenderness around the site where the blood is drawn. Rarely, the site can become infected. The salivary and cheek swab collection are relatively quick and painless procedures
What is the turnaround time (TAT) for the result of the BRCA comprehensive panel?
The BRCA comprehensive panel results are usually available within 3-4 weeks after the sample collection. This duration may vary depending on the diagnostic clinic
What is HBOC syndrome?
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a genetic condition characterized by an increased risk of developing breast and ovarian cancers. It is primarily caused by mutations in the BRCA1 and BRCA2 genes. Individuals with HBOC syndrome have a higher likelihood of developing these cancers at a younger age compared to the general population. Genetic testing and counselling are essential for the early detection and management of this syndrome
What are the preventive measures to reduce the risk of breast and ovarian cancer?
Preventive measures to reduce the risk of breast and ovarian cancer include regular screening through mammograms and pelvic exams, particularly for individuals with a family history of these cancers. Lifestyle modifications such as maintaining a healthy weight, regularly exercising, limiting alcohol consumption, and avoiding smoking can also lower the risk. For those with a strong family history or known genetic mutations like BRCA1/2, preventive options like prophylactic mastectomy or oophorectomy may be considered after careful consultation with healthcare providers and genetic counsellors
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