How to Be Tested For a BRCA Gene Mutation

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Transcript of Podcast Episode 3

Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.

Welcome to episode 3:  How to be tested for BRCA gene mutation

In the last episode I discussed how I came to be aware of the BRCA2 gene mutation in my family, and how I came to be tested.  I am now going to explain how to have genetic testing if you suspect that you have a genetic mutation in your family.

The first step is to look at your family’s health history.  In particular, ask yourself the following questions:

  • Have any of your blood relatives had cancer?
  • What types of cancer were they?
  • How old were your relatives when they developed cancer?

Are You at High Risk of a BRCA Gene Mutation?

A person is considered high risk of having a BRCA mutation if they have a family history of:

  • Breast cancer diagnosed before the age of 50;
  • Male breast cancer at any age;
  • Multiple relatives on the same side of the family with breast cancer, particularly first degree relatives (mother, sister, daughter);
  • Multiple breast cancers in the same woman, meaning breast cancer developing in both breasts over time or at the same time;
  • Both breast and ovarian cancer in the same woman;
  • A history of ovarian cancer in the woman’s family, especially if a first degree relative;
  • Ashkenazi Jewish heritage (they have a 2.5% chance of inheriting a BRCA mutation compared to 0.25% in the general population).

I have written an article on Midlifestylist.com called Know Your Family and Personal Health History.  I included a free health history form with a family tree so that you can get an idea of how to document your family’s health history.  It is important to look at both the males and the females as a BRCA gene mutation can be passed down through either line.

Genetic Testing at a Family Cancer Clinic

Genetic testing is free in Australia if a genetic mutation has been found in your family.  You will need your relative’s name and where they were tested.  You may have been given a copy of your relative’s results, or a letter from their genetic counsellor saying what genetic mutation they have.

Free genetic testing may be available if there is a strong family history of breast or ovarian cancer.  The genetic counsellor has to estimate that you have at least a 10% – 15% chance of having a faulty BRCA 1 or 2 gene in the family.  A relative that has had breast or ovarian cancer would need to be willing to have genetic testing.

Publicly funded testing is only available through a Family Cancer Clinic in Australia, not via a GP.  Family Cancer Clinics are based throughout Australia and are covered by Medicare.  Your GP will need to refer you to the clinic for Genetic Counselling first.

Referral for genetic testing at the Family Cancer Clinic will depend on whether the Genetic Counsellor assesses you and feels that there is a strong suspicion of a genetic mutation based on your family history. If you elect to pay privately it costs approximately $2000, which is not covered by Medicare or private insurance.

Private Genetic Counselling

Genetic Counsellors are also available privately in some cities.  My Genetic Counsellor is a medical consultant that I saw privately.  It did cost me to see him, but my actual test was free.  He saw my sons privately as well, and tested them free of charge.  I elected to see a private Genetic Counsellor because I had seen him previously and knew him professionally (I am a nurse).

Genetic testing is done via a blood test.  My sons and I had two separate blood tests 15 minutes apart.  The results were available after a few weeks.

Why You Should Avoid Do-It-Yourself Genetic Tests

I have read about do-it-yourself genetic tests available by mail order.  I strongly recommend that you don’t go down this route for a couple of different reasons.  First they may give you a false positive or a false negative.  It’s more likely to be a false positive which could lead to an anxious reaction for nothing.  

Secondly, having the discussion with the genetic counsellor is extremely important.  They are able to explain what your risks are, based on your family history. It is not the same for everyone.  Some families have a high number of prostate cancer cases, but a low number of breast cancer cases.  That is the case in my family.  

The implications of a diagnosis of a BRCA 1 or 2 gene mutation need to be carefully considered before you have testing.  This can only be explained by a medical professional trained in this field.  Please don’t take any shortcuts – I strongly advise you to get a referral to a Genetic Counsellor for these reasons.

Further Information

If you would like to read further about this, I have a link on Midlifestylist to Pink Hope.  They have an Assess Your Risk Tool on their website that can help you to work out whether you need to see a genetic counsellor or not.

I will be talking about what to do if you test positive for a BRCA 1 or 2 gene mutation in my next episode.  For further information about this and cancer awareness, go to my website Midlifestylist.com and search BRCA.  You can also read about my personal journey with BRCA2 and prophylactic surgery on the website.

Thank you for listening.  Please subscribe to the podcast so that you don’t miss an episode.  You can contact me via Midlifestylist.com 

Outro:

Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s Blog and Life This Week Linkup on Denyse Whelan’s blog

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Being Diagnosed With a BRCA2 Gene Mutation – My Story

Multiple coloured cancer awareness ribbons

Transcript of Podcast Episode 2

Welcome to the BRCA gene mutation and cancer awareness podcast.  I am Christina Henry of Midlifestylist.com.  I am a Registered Nurse with a BRCA2 gene mutation.  My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk.  BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of.  My podcast aims to change that.  I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery.  If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you.  Thanks for joining me.

Being diagnosed with a BRCA2 Gene Mutation – My Story

Many of you have found this podcast through a search for BRCA.  You may already follow my blog Midlifestylist.com.  I have written quite a lot about my BRCA journey.  But I haven’t told my story of how I was diagnosed.

I first heard about BRCA over 10 years ago.  Being a nurse, I was aware of families where breast cancer affected multiple generations.  I worked in a surgical ward where breast, ovarian and prostate cancer patients were cared for.

My Cousin Has a BRCA2 Gene Mutation

One of my patients happened to be my first cousin.  We are from a very large family – I have about 52 first cousins, many of whom are much older than me.  This cousin is almost a whole generation older – closer to my parents’ age than mine.  I didn’t know her very well because she grew up in Australia, while I grew up in New Zealand.

This cousin had had a very extensive surgery prophylactically.  She told me about the BRCA gene mutation – she has BRCA2.  Because both her parents had had BRCA2 cancers it was unclear which side of the family the BRCA2 gene mutation came from.  My father’s sister is her mother.  Both her parents were deceased.  Her mother died from ovarian cancer, and her father had had male breast cancer.

My cousin and I had the same breast surgeon.  I had seen him because of some breast lumps that were benign.  He recommended that I see a genetic counselor.  At the time my only direct family that had had cancer was my mother who passed away from metastatic brain cancer, unknown primary.

My First Visit to the Genetic Counselor

After looking at my family history, the genetic counselor advised me that there looked to be no evidence of BRCA2 in my branch of the family tree.  The test for BRCA at that time was very expensive.  I was a single mother of two teenage boys and did not have the means to pay for testing, or for prophylactic surgery for that matter.  I decided to continue regular monitoring which meant yearly mammograms and breast ultrasounds.

Over the next few years more cancer cropped up in my family – two siblings and my son had melanomas, and dad had prostate and pancreatic cancer.  My breasts were high risk anyway because of dense breast tissue and the lumps.  I was always fearful that they were going to diagnose me with breast cancer.

My Second Visit to the Genetic Counselor

Early in 2020 I decided to go back to the genetic counselor because I could never really get it out of my mind.  After revisiting my family tree he said that there was a high probability of me having a BRCA2 gene mutation.  The test was relatively straightforward because they only had to look at the same genetic mutation as my cousin.  It was now covered by Medicare so there was no cost to me.

I was at work when the genetic counselor phoned me with the results.  It was not a surprise to me that I had the genetic mutation.  I think I was in shock because I did not react at all.  He said that my sons would need to be tested as well.

A BRCA2 Positive Result

I was driving home and it hit me – “Oh My God I have given my sons a death sentence”.  Tears started streaming down my face and it was a struggle to drive the rest of the way home.  How am I going to tell my boys?  I had already discussed what I would do with my husband.  Because my risks of breast and ovarian cancer were so high, I knew I would have prophylactic surgery.  I had already booked the appointment with the gynae-oncologist.

I had to tell my sons in person and as soon as possible.  It was one of the hardest things I’ve ever had to do.  Both of them took it really well and were definite in their desire to have the test as well.  We all expected my older son to have the BRCA2 gene mutation as well because he had had a melanoma.

My Third Visit to the Genetic Counselor

We went to the genetic counselor as a family.  My sons had their blood tests straight away.  A few weeks later they each received a letter in the mail and to our surprise, neither of them tested positive.  My older son undoubtedly has a gene for melanoma, but we already have skin checks six monthly so there is no reason to look for the gene responsible.

It is such a huge relief that my sons haven’t inherited the BRCA2 gene mutation from me.  They have had to watch me go through multiple surgeries, their grandfather died of prostate and pancreatic cancer, and now my brother has prostate cancer as well.  It is one glimmer of joy in this journey with BRCA2.

Genetic Counseling and Testing

I feel very grateful that my cousin told me about BRCA2 10 years ago.  I could never relax knowing that there was a chance of me having it as well.  I am really lucky that she happened to have the same breast doctor and genetic counselor as I do.  It made it much easier to get testing done.  Because the BRCA2 gene passed down through the male line in my branch of the family there is not the large incidence of breast or ovarian cancer that would alert the doctors. 

It was only by deciding to go back to the genetic counselor that the genetic mutation was discovered.  Because there have been a lot of advances in research, it is worth being retested if you had a test done some years ago.  Some people who were tested negative back then have now been found to have a genetic mutation.  Talk to your doctor if you are concerned.

In my next episode I will be discussing genetic counseling and testing.  For further information, go to my website Midlifestylist.com and search BRCA.  I will be discussing these topics in greater detail. You can read about my personal journey with BRCA2 and prophylactic surgery on the website.

Thank you for listening.  Please subscribe to the podcast so that you don’t miss an episode.  You can contact me via Midlifestylist.com 

Outro

Do you want to learn more about BRCA gene mutations and cancer awareness?  Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle.  Please subscribe to the podcast so that you don’t miss an episode.  If there is a topic you would like me to talk about you can contact me via Midlifestylist.com.  Thank you for listening.  

Shared on Weekend Coffee Linkup on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

Continue Reading

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