BRCA1 and BRCA2 Test

The BRCA1 and BRCA2 test is offered to individuals who are likely to inherit BRCA mutation. This is not a routine test.
Test is indicated in women and men who fit the following condition/s:
1. Cancer detected at a young age (< 50 yrs for breast & colon cancer)
2. Diagnosis of a rare cancer i.e., sarcoma
3. Multiple family members with same or related cancers
4. Multiple cancer types in the same person
5. Cancer in both sides of a paired organ i.e., breast, kidney
6. Certain ethnic backgrounds
7. Family member identified with genetic mutation predisposing to cancer
8. Individuals with triple negative (Estrogen receptor, progesterone receptor and Her2/neu) breast cancer. 
Early risk detection of cancer through genetic testing can help in various ways:
a. Explain reason for the cancer and help guide treatment. for e.g., The oral PARP inhibitor olaparib is an adjuvant therapy for the treatment of patients with recurrent ovarian cancer and a BRCA mutation
b. Inform the test recipient that a high risk exists and thus guide take steps that can prevent or nip cancer at an early stage for e.g. Enable timely preventive treatments through health check-ups
c. Help family members to undertake genetic testing to understand the risk of acquiring a cancer
d. Can help in reproductive decision planning

BRCA1 and BRCA2 test identifies mutations in BRCA1/2 gene  and helps indicate predisposition to breast/ovarian cancer 

BRCA1 and BRCA2 test requires a blood sample. A tourniquet (elastic) band is placed tightly on the upper arm. The patient is then asked to make a fist. This helps in the build-up of blood filling the veins. The skin is disinfected before needle insertion and the blood sample is collected in vacutainer. 
You will be required to fill a BRCA proforma and consent form

Mutation not detected

The tests results indicate
• Positive Result : Presence of pathogenic mutation in any/both BRCA genes. Patient has a higher chance of developing the associated cancer
• Negative Results: Pathogenic mutation in BRCA genes has not  been detected but this does not rule out that cancer will not occur in these patients. There is  a possibility that current test is not able detect a cancer causing mutation
• Variant of Unknown Significance: The variant identified  cannot be assigned/associated with breast cancers due to limited evidences available in literature.