Brca Gene Testing

1 What is a BRCA Gene Test for Breast and Ovarian Cancer Risk?

The BRCA gene test for breast and ovarian cancer is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes - BRCA1 and BRCA2.

Women who have inherited mutations in these genes face a much higher risk  of developing either breast or ovarian cancers.

The BRCA gene test is offered only to individuals who are likely to have an inherited mutation, based on personal or family history, or who have specific types of breast cancer.

The BRCA gene test is routinely performed on women at average risk of breast and ovarian cancers. Having a BRCA gene mutation is not common.

Inherited BRCA gene mutations are responsible for about 5 percent of breast cancers and about 10 to 15 percent of ovarian cancers.

From a BRCA gene test, you can have knowledge on whether to carry n inherited BRCA gene mutation and receive an estimate of your personal risk of breast cancer and ovarian cancer.

Genetic counseling is an important part of the BRCA gene test process.

2 Reasons for Procedure

Here are the most common reasons to take BRCA gene test for breast and ovarian cancer.

Mutations in either breast cancer gene - BRCA1 or BRCA2, significantly increase your risk of breast and ovarian cancer when compared with a risk of a woman without a BRCA gene mutation.

Men with inherited BRCA gene mutations also face a risk of breast. BRCA mutations may also increase the risks of other types of cancer in women and men alike.

You might be at a risk of having BRCA gene testing if you have:

  • A personal history of breast cancer diagnosed at a young age (premenopausal), breast cancer affecting both breasts (bilateral breast cancer), or both breasts and ovarian cancers.
  • A personal history od ovarian cancer and a close relative with ovarian cancer or premenopausal breast cancer or both.
  • A male relative with breast cancer.
  • A family member with both breast and ovarian cancers.
  • Two or more relatives with ovarian cancer.
  • A relative with an unknown BRCA1 or BRCA2 mutation.
  • Ashkenazi Jewish ancestry and a personal history of ovarian cancer.

Who should consider NRCA testing? Ideally, in a family that has a possibility of carrying a BRCA mutation, a family member who has either breast or ovarian cancer will have the BRCA gene test first.

If this individual agrees to genetic testing and does not carry the BRCA gene mutation, then other family members will not benefit from taking the test.

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3 Potential Risks

There is no medical risk associated with being tested for BRCA gene mutation other than the slight risks that include lightheadedness, bleeding or bruising or having your blood withdrawn.

Risks are associated with the emotional, financial, medical and social implications of your test results.

If your test is positive for a BRCA gene mutation, you may face the following:

  • Feelings of anxiety, anger, sadness or depression.
  • Concerns over possible insurance discrimination.
  • Strained family relationships over learning a familial genetic mutation.
  • Difficult decisions about preventive measures that have long-term consequences.
  • Feelings of inevitability that you will get cancer.

On the other hand, if your tests are negative for BRCA mutation or your results are not clear-cut, say you have a genetic mutation, but one that has not been associated with cancer in other people you may experience:

  • Uncertainty and concern that your result may not be a true negative result.
  • "Survivor guilt" if your family has a known gene mutation that may affect your loved ones.

4 Preparing for your Procedure

Preparing process for the BRCA gene testing is to meet with a genetic counselor.

As soon as you consider having any genetic test, it is advisable to meet with a genetic counselor in order to determine whether it is appropriate for you and to discuss the possible risks, limitations, and benefits.

The genetic counselor takes a detailed family and medical history assesses your risk of developing cancer, discusses the risks and benefits of genetic testing and also outlines your options.

In order to prepare for you meeting ith the genetic counselor, you must:

  • Gather information about your family's medical history, especially that of closest relatives.
  • Document your personal medical history, including collecting records from specialists or results of previous genetic testing, if available.
  • Write down questions for the counselor.
  • Consider having a friend or family member accompany you to help ask a question or take notes.

If you decide to have a BRCA gene test done, prepare yourself for the emotional and social implications that learning your genetic status might have.

Test results could also fail to provide you with clear-cut answers regarding your risk of cancer so that you can prepare to face that possibility.

5 What to Expect

Read on to learn more about what to expect before, during, and after your BRCA gene test for breast and ovarian cancer risk.

The BRCA in most cases is a blood test. A doctor, nurse or a medical technician inserts a needle into your vein, usually in your arm, to draw the blood sample required for the testing.  

Your blood sample is further taken to a lab for further analysis. In some situations, other sample types are collected for DNA analysis, including saliva or skin biopsy samples.

If you have a family history of cancer and are interested in pursuing a  saliva DNA test, discuss it with your doctor.

He or she can then refer you to a genetic counselor who can then determine the most appropriate sample type for testing. It takes several weeks before the test results are available.

You will meet with your genetic counselor and he or she will explain the results to you.

Federal and state laws help ensure the privacy of your genetic information and also protect against discrimination in health insurance and employment.

6 Procedure Results

The results of treatment by Gamma Knife radiosurgery occurs gradually, depending on the conditions being treated:

Benign tumors. Gamma Knife radiosurgery results in min the destruction of the ability for the cancer cells to reproduce. The tumor may shrink over a period of 18 months to two years, but the main goal of Gamma Knife radiosurgery for benign tumors is to prevent any tumor growth.

Malignant tumors. Cancerous (malignant) may shrink faster, often within a few months.

Arteriovenous malformations (AVMs). The radiation therapy thickens and closes the abnormal blood vessels. This process is quite lengthy, it can take  two years or more.

Trigeminal neuralgia. Gamma Knife radiosurgery creates a lesion that blocks transmission of pain signals along the trigeminal nerve. Pain relief may take several months.

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