Genetic test which is also known as DNA-based test is the most powerful technique used to test for breast cancer detection. It involves the direct examination of DNA molecule itself.
By using a molecular diagnostic test to assess whether a breast tumor will respond to chemotherapy, doctor’s need to more precisely identify which patients can be adequately treated with hormonal therapy alone and which patients will truly benefit if chemotherapy is added to the treatment. With better individualized treatment, we can spare women the side effects of chemotherapy where it is unnecessary.
Breast cancer, like other cancers, develops when changes occur in genes in breast cells. In that sense, all breast cancer has a genetic element. But, “genetic” does not mean inherited. Only an estimated 5% to 10% of breast cancer cases result from an inherited genetic predisposition to the disease. In other words, more than 90% of all breast cancer cases result from factors that are not inherited and, in many cases, are unknown.
So far, researchers have found two genes linked with breast cancer-labeled BRCA1 and BRCA2-that everyone inherits in pairs: one from our mother and one from our father. When they function normally, they are supposed to stop the growth of cancerous cells in the breast. When both genes in a pair are damaged, they don’t work properly and cancer may develop. People who inherit a damaged BRCA1 or BRCA2 gene from one parent are at greater risk of developing breast cancer than people who inherit two normal genes.
Studies can estimate risk among large numbers of people who have an inherited mutation, but not the risk for an individual woman. Women with any BRCA mutation have about a 33% to 50% risk of developing cancer by age 50, and a 56% to 87% risk by age 70. Most of the research focuses on women with a strong family history of breast or ovarian cancer (several female relatives on one side who have breast and/or ovarian cancer before age 40, cancer in both breasts, and/or cases of male breast cancer).
By being able to identify these genes through particular markers associated with the gene, doctors will know which individuals are more susceptible to cancer and therefore can follow the proper procedure. The earlier the doctor can diagnose the cancer, the more effective the treatment will be.
Scientists warn however that, although they have discovered one of the genes associated with breast cancer, there is still no cure available. They have successfully identified the gene, but presently there is no way to “repair” the gene.
The recent isolation of the gene BRCA-1 has prompted investigators to identify other genes that may contribute to breast cancer, ovarian cancer and the breast-ovarian cancer syndrome.
Keith Londrie II is a well known author. For more information on treating breast cancer, please visit Treat Breast Cancer for a wealth of information. You may also want to visit keith’s own web site at http://keithlondrie.com/
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Insurance companies are now allowed to consider the results of genetic test when underwriting policies. DNA samples will be permitted only in cases where the policyholder may have inherited the degenerative Huntington’s disease.
The decision of the expert advisory body reporting to the Government on genetics and insurance will open the door to the consideration of genetic test results for diseases which are inherited, including breast cancer.
Consumer groups and opposition MPs maintain that the introduction of DNA tests for insurance will create a group of people – the genetic underclass – who will be unable to get medical insurance cover.
A prime example of a group who will have to pay higher premiums and may never qualify for life insurance, are those inheriting the gene associated with Huntington’s, a terminal disease. Failure to disclose this disease to an insurance company following a DNA test would invalidate the cover.
The Liberal Democrat spokesman for health, Dr Peter Brand, says that not only is it going to be very difficult to regulate genetic testing, but it will create not only a genetic underclass, but also a health underclass. He maintains that although it is sensible to test when a genetic disease is treatable, it should be carried out confidentially, otherwise people won’t be able to sign up for mortgages and insurance.
An independent group of health professionals, geneticists and actuaries, known as the Genetics and Insurance Committee, has been established by the Department of Health, to assess genetic tests.
Hereditary breast cancer, myotonic dystrophy and Alzheimer’s disease are among nine diseases, which the Association of British Insurers (ABI) plans to request permission to include in a list of diseases for which genetic test results can be requested.
The National Consumer Council considers the granting of this application could be a backward step, as it will discourage people from applying for a test, which could be in their own interest.
Insurers will be told that they may consider genetic tests for Huntington’s when assessing life insurance cover, although not for mortgage protection and some other types of insurance cover. Cornhill and Standard Life do not consider the results from genetic testing when assessing a claim, although some insurance companies may do..
The Huntington’s Disease Association accepts that insurers must behave as ‘commercial companies’ Each person whose parent has Huntington’s disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Regional Genetic Clinics throughout the country. This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.50 per cent of people have a chance of inheriting Huntington’s from a parent who is diagnosed with the disease There are about 7000 people suffering from the illness in the country.
Juvenile Huntington’s Disease (JHD) refers to anyone who develops signs or symptoms of HD before they are 20 years old. It is a relatively rare condition and only about 5% of people affected with HD will develop symptoms this young. This can make it quite an isolating experience for the person affected by HD, their family, and any professionals that are helping them.
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GENETIC TESTING FOR BREAST CANCER-BRCA1 and BRCA2
If you are concerned about familial breast cancer, the first step is to talk things over with your GP or Genetic Counsellor.
You will be asked about your family history and ethnic background, as well as any blood relatives, on either side of your family, who have had breast or related cancers.
If a faulty breast cancer gene has already been identified in a family member, you may be referred directly to a specialist genetic service.
Once your GP or Genetic Counsellor has taken a full family history, your risk of developing breast cancer can be assessed.
Most women will be at no greater risk than any other woman.
If this is the case your counsellor should discuss this with you and provide you with some written information on being breast aware and lifestyle risks.
However, if you develop any breast changes or if your family history or circumstances alter, it is important to go back and see your GP.
An increased risk
A small number of women may be viewed as having a greater risk of developing breast cancer on the grounds of a strong family history.
If this applies to you, you will be classified as having one of the following:
a moderate risk
a high risk.
You will then be referred to either a family history clinic or a specialist in cancer genetics. The type of care you receive will be depending on your risk level.
Screening
Depending on your age, you may be offered a mammogram.
Women between the ages of 40 and 49 will normally be offered annual mammograms.
However, it is currently unclear how effective mammograms are in detecting breast cancer early in women at increased risk – clinical studies are currently researching this issue.
Because of this, women aged 30 to 39 will be offered mammograms only as part of a research study rather than as a matter of routine.
Women under the age of 30 are unlikely to be offered mammograms, as younger women’s breast tissue is too dense to produce a clear mammogram picture.
Genetic counselling
If you are considered to be at high risk of developing breast cancer you will be offered specialist genetic counselling.
This will give you more information about your family history, how your lifestyle may affect you, what having a genetic test means, and the options available to you if you choose to go ahead with the test.
You may feel anxious about finding out about your risk of developing breast cancer, but remember that your counsellor is trained to deal with these issues.
Testing
The test (Screening of BRCA1 and BRCA2) is done by Eastern Biotech & Life Sciences, Dubai on a blood sample from a living relative who has already developed breast or ovarian cancer.
The results can take many months to complete, as it is technically very difficult to identify the faulty gene.
If it is found that you do carry the faulty gene, although you will not necessarily develop breast cancer, you do have a higher risk of doing so.
In Ashkenazi Jewish women, specialists already know that there are three specific gene faults in a large proportion of the families where breast and ovarian cancer is common.
This means that testing may be offered to relatives at high risk without needing to carry out the gene search.
Pankaj Sohaney is working as Manager for Eastern Biotech & Life Sciences which is pioneer in offering genetic testing in middle east.
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