BRCA 1 & 2 full gene sequencing with Sanger validation is an advanced diagnostic test that examines the BRCA1 and BRCA2 genes in their entirety. BRCA1 and BRCA2 are human genes that produce proteins responsible for repairing damaged DNA. When either of these genes is mutated or altered, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer, particularly breast and ovarian cancer.
The importance of understanding the genetic aspects of these cancers is immense, as it can significantly impact the clinical management, prevention strategies, and counseling of patients and families who are carriers of BRCA mutations. Additionally, it guides decisions regarding risk-reducing surgeries and the selection of systemic therapies.
This test is performed to determine whether an individual carries mutations in the BRCA1 and/or BRCA2 genes, which are associated with a higher risk of breast and ovarian cancer, among others.
Sanger validation is an additional step in the testing process that uses Sanger sequencing, a highly reliable method, to confirm the results of the initial gene sequencing. This ensures accuracy and reliability in the results.
Individuals with a personal or family history of breast or ovarian cancer, particularly at a young age, or with multiple family members affected by these cancers, should consider this test. It’s also relevant for those with a known BRCA mutation in their family.
The test is performed using a blood sample. The DNA is extracted from the blood and then analyzed using gene sequencing technologies. Any identified mutations are then validated using Sanger sequencing.
Having a BRCA mutation means you have a higher risk of developing certain types of cancer, particularly breast and ovarian cancer. Men with BRCA mutations are also at an increased risk for male breast cancer and prostate cancer.
If you test positive for a BRCA mutation, your doctor may recommend increased cancer surveillance, risk-reducing medications, or preventive surgeries to remove the breasts and/or ovaries before cancer develops.
While BRCA mutations are most notably associated with breast and ovarian cancer, they can also be linked to increased risks for other types of cancer, including prostate, pancreatic, and melanoma.
Yes, men can carry BRCA mutations and can pass them onto their children. They are also at risk for certain cancers if they carry these mutations.
Yes, individuals with BRCA mutations can consider various family planning options, including pre-implantation genetic testing, to avoid passing the mutation to children.
There are targeted therapies available for cancers that are driven by BRCA mutations. These treatments are more effective when the cancer is driven by a genetic alteration in the BRCA genes.
If you test positive for a BRCA mutation, it’s important to share this information with your family members as they may also be at risk and could benefit from genetic testing.
While lifestyle changes like maintaining a healthy diet and regular exercise are generally beneficial, they cannot change the genetic risk associated with a BRCA mutation. However, they may contribute to overall health.
It is possible to have the test during pregnancy, but it’s important to discuss the implications and timing with your doctor.
Yes, there are support groups and genetic counselors available to help individuals and families understand and cope with the implications of BRCA mutations.
You should consult your doctor, who may refer you to a genetic counselor or oncologist for further evaluation and discussion of management options.
Being informed of your genetic risk for cancer through BRCA 1 & 2 Full Gene Sequencing is an empowering step. It enables you and your doctor to make proactive decisions regarding cancer prevention and treatment. Understanding the implications for both yourself and your family members is crucial. Make sure to consult a healthcare professional for personalized medical advice and support in managing the risks associated with BRCA mutations.