How to Test BRCA1 and BRCA2 Genes

Here you can get information about How to Test BRCA1 and BRCA2 Genes. BRCA1 and BRCA2 mutations run in families, and are linked to a heightened risk of both breast and ovarian cancer.

Note that 0.2% of breast and ovarian cancer within the US are linked to a BRCA mutation; it’s for this reason that screening (i.e. testing for the presence of those gene mutations) isn’t available to the overall population, and is merely offered to pick people with a high risk history. If you’ve got a private or case history of those sorts of cancers, speak to your doctor to ascertain if you’re eligible for BRCA1 and BRCA2 testing. If you’re eligible, you’ll also get to see a genetic counsellor for guidance as you undergo the testing procedure, which involves an easy biopsy followed by DNA analysis.

Determine whether you’re eligible for BRCA1 and BRCA2 testing

If you’ve got a primary degree loved one (a parent, a sibling, or a child) with breast cancer before age 50 or ovarian cancer, who has tested positive for either BRCA1 or BRCA2, you’re eligible for genetic testing. Both BRCA1 and BRCA2 are genes which will be passed on from parents to their children.

  • Testing positive for either one carries a heightened risk of developing breast and/or ovarian cancer during your lifetime.

Tell your doctor if you had breast cancer before age 50 or ovarian cancer

If you’ve got a private history of breast cancer before age 50, or ovarian cancer at any age, you’re also eligible for genetic testing. The aim of genetic testing during this case is to work out your risk of developing cancer again down the road (as the danger could also be heightened if you test positive for the mutation), and also to supply information which will assist your children in making decisions about their own healthcare.

  • If you test positive for a BRCA1 or BRCA2 mutation, your children also will be eligible for genetic testing because the mutation may are passed onto them genetically.
  • Children aren’t eligible for testing without a positive end in their parent to first confirm that the mutation is indeed present (and that the breast cancer or ovarian cancer isn’t associated with other factors or to random chance).

Note if you or a loved one has had “triple negative” carcinoma

If you or a degree loved one has “triple negative” (negative for estrogen receptors, progesterone receptors, and HER2) carcinoma before the age of 60, the one that had the cancer is eligible for genetic testing. Again, the person with the cancer must test positive for the mutation before the other relations are eligible for testing. This is often to make sure that the mutation is present, before investing the time and money in testing relatives.

Seek pre-test genetic counselling

Before receiving the biopsy, it’s mandatory to receive pre-test genetic counselling. Because the implications of testing positive are often life-changing, you’ll get to talk through all the possible outcomes with the genetic counsellor, and discuss an idea of action on what you’ll do and the way you’ll move forward once you are doing to determine the results.

  • While a negative result can provide some measure of reassurance, it doesn’t eliminate the likelihood of developing these cancers. Rather, it means your risk is that the same because of the general population (11% risk for breast cancer in your lifetime and 1.3% risk for ovarian cancer). Furthermore, the test isn’t 100% accurate, so there’s a tiny chance that you simply could test negative and still be positive for a BRCA mutation.
  • A positive BRCA test puts you at up to an 85% risk of developing breast cancer at some point in your life, and a 30-50% risk of developing ovarian cancer. Needless to mention, knowing these risks will add worry and stress to your life.
  • Consider the implications of a positive result on your children. If you test positive for a BRCA mutation, there’s a 50% chance for every of your children to possess the mutation (note that the mutation is most vital for women, as male breast cancer is extremely rare and men cannot get ovarian cancer).

Choose the biopsy

The biopsy itself is extremely simple. You’ll catch on done at any medical laboratory or hospital. Simply have your doctor fill out the specified paperwork (which he or she is going to do only after you’ve got had a consultation with a genetic counsellor), and convey it with you to the lab.

  • It’ll take a couple of weeks, or possibly even a few of months, for you to receive the results.
  • The genetic counsellor will either book a follow-up appointment with you when he or she knows the results are going to be ready (as he or she could also be conversant in the lab’s time interval in your area). Alternatively, you’ll receive a call from the genetic counsellor when your results are able to be able to.
  • If you’ve got not heard back within a few months, phone the lab or your genetic counsellor to see in about the status of your BRCA testing.

Book a post-test genetic counselling appointment

Due to the gravity of this particular test, you’ll be required to receive your leads to the presence of a genetic counsellor (just as you had to ascertain one before receiving the test). The rationale for this is often that they will assist you to handle the impact of the results (either good or bad), and to settle on an appropriate course of action moving forwards.

  • If you test negative, you’ll still live your life as normal, knowing that your risk is not any greater than the overall population.
  • If you test positive, however, there are a variety of things to think about moving forwards. You’ll prefer to get your breasts and/or your ovaries removed prophylactically (preventatively).
  • You’ll get to ask the genetic counsellor the impact the result may wear your children, how you propose to inform your family, and/or how it’s going to impact your decision to possess more children down the road.
  • If you test positive for a BRCA mutation, it’s important to tell your children in age-appropriate ways; they’re going to then be invited to talk to a genetic counsellor and to make a decision for themselves whether they need to be tested.
  • However, genetic testing for people under 18 is very controversial, as they’ll not be mature enough to form an informed decision of a few diseases which will not onset until their adults.
  • The invitation will remain hospitable to them at any stage in life, so albeit they do not want in their twenties, as an example, they’ll return for the test in their thirties if their perspective and desire for testing has changed.
  • It’s as of these reasons that it’s important to ascertain a genetic counsellor, as he or she is someone who has been specifically trained to assist people navigate this challenging time in their lives.
How to Test BRCA1 and BRCA2 Genes

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