“Life comes with many challenges. The ones that should not scare us are the ones we can take on and take control of ”
These are the words of Hollywood actress, director and scriptwriter Angelina Jolie from her article ‘MY medical choice’ published in NYtimes. Angelina saw her mother dying from breast cancer at the age of 56 after suffering from the disease for nearly a decade. Two of her close relatives also fell prey to breast and ovarian cancer. Jolie decided to get her genetic testing done to check if she was carrying faulty genes BRCA1 and BRCA2. She was found to be carrying the mutated gene BRCA1 that, according to her doctor increased her risk of developing breast cancer to 87%. Her chances of getting ovarian cancer were also estimated to be 50%. She made a decision to undergo a preventive double mastectomy to remove both of her breast tissues and also got her ovaries removed. By taking these steps she reduced her chances of cancer to 5%. Being from glamour industry and having a status of ‘beauty Diva’ did not stop her sharing her story with the world. She revealed this bold decision of hers in order to make women round the world aware of the medical choices available to them especially to the ones who have strong family history of familial cancer. She also wanted to send a message across that a woman’s sexual identity is not lessened by undergoing these preventive surgeries.
The story of Angelina Jolie has helped in raising the awareness of genetic testing among women. In this article we try to explain the science behind genetic testing, its significance and limitations in cancer prevention.
What is Genetic Testing?
Genetic testing is a medical test that identifies mutation (erratic change) in chromosomes, genes or proteins. The outcome of the test can rule out or confirm a suspected genetic condition or determine the chances of person developing or passing on certain disease. A breast cancer (BRCA) gene test is a blood or saliva test to check mutation in gene responsible for controlling normal growth of cells, namely BRCA1 and BRCA2. Finding mutations in these oncogenes can help evaluating the risk of developing breast and ovarian cancer.
To know more about breast cancer refer here http://www.breastcancer.org
To know more about ovarian cancer refer here http://www.webmd.com/ovarian-cancer
What are BRCA1 and BRCA2 ?
BRCA1 and BRCA2 are tumor suppressor genes found in all humans. They produce proteins responsible for the repair of broken DNA. Some mutation (alterations) in these genes may cause the absence of the protein resulting in lack of DNA repair process. The cells with broken DNA can cause further mutations resulting in uncontrollable growth of abnormal cells leading to cancer.
Researchers have identified more than 1800 of BRCA1 mutations. Not all mutations cause cancer. Some mutations are associated with increased risk of breast cancer or ovarian cancer. BRCA1 and BRCA2 mutations together account for 5-10% of all breast cancers. Breast and ovarian cancers due to BRCA1 and BRCA2 tend to develop at younger age as compared to their non-hereditary counterparts.
A harmful BRCA1 or BRCA2 mutation can be inherited either from mother or father. A child has 50% chances of inheriting the faulty gene from his mutation positive parent.
Harmful mutations of BRCA1 and BRCA2 may cause the other type of cancers too in addition to breast and ovarian cancer. BRCA1 mutation may also cause fallopian tube cancer in women. Men with BRCA2 mutation are at higher risk of breast cancer. Men and women with BRCA1 And BRCA2 may have increased risk of pancreatic cancer. Risk of prostate cancer is also increased in men.
Significance of genetic testing
Following are the benefits of genetic testing:
- Helps to identify people who are more prone to develop a medical condition that may be preventable. People with BRCA mutation and strong family history can opt for removal of breasts and ovaries as preventive measure.
- A true negative result provides a sense of relief regarding the future risk of cancer and takes away all the stress of frequent checkups, tests and unnecessary preventive surgeries. Also if a person is found negative of BRCA mutation then his/her children will not inherit the family’s susceptibility to cancer.
Drawback of genetic testing
A serious drawback is the difficulty in interpreting the result of the test. The test cannot ascertain if a person will develop symptoms of the disease.
- A person found positive of the mutation may never develop the disease. Scientists are of the opinion that environmental factors and/or other unknown mutations may be required to trigger the onset of the disease.
- Genetic testing is prone to provoke a considerable amount of anxiety especially when asymptotic person is found positive. It may increase level of stress and may strain relationships.
A genetic counselor plays a very important role in genetic testing. She will be working alongside the doctor and will engage in following
- She will provide details regarding the limitations and risk involved in taking the genetic test.
- Confirm the diagnosis of the disorder.
- Provide information regarding the disease, its present and future implication.
- Will evaluate the risk of developing the disease and hence will advice the preventive treatment accordingly
- He will answer to all the queries of the patient and provide psychological support to him and his family members.
It is very important to consult a good genetic counselor before undergoing the test.
BRCA1 and BRCA2 testing in India
With a subsequent rise in cancer incidences in India there is rise in inherited cancer counts also. Mostly people in India see doctor only after the presence of symptoms or when the cancer reaches an advanced stage. The probability of curing a cancer highly relies on how early it has been diagnosed. Doctors have started emphasizing on genetic testing to prevent the development of hereditary cancers in India also. There are many diagnostic labs in various cities with facility of BRCA1 and BRCA2 testing. LabsAdvisor.com can locate a diagnostic lab for the test near you and with very economical rates. For Delhi based people, you may click on the link below and book your test
Cost of BRCA Genetic Testing in Delhi
It takes around 20 working days for the report to come after the blood sample is collected.
You can fill the form given below for a call back to discuss and book your test
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