What To Do If You Are Diagnosed With a BRCA Gene Mutation

Transcript of Podcast Episode 4

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.

You Just Found Out You Have a BRCA Gene Mutation – what next?

You have had your appointment with the Genetic Counselor, as discussed in the last episode.  After an anxious wait, you are notified, usually by mail but sometimes by phone, that you have a BRCA 1 or 2 gene mutation.  You are probably reeling, and experiencing the full gamut of emotions like shock and grief.

My first thought was for my sons who are aged in their 20s.  Because they have a 50% chance of inheriting it from me, I thought I had given them a death sentence.  If you don’t have children but want them one day, you will be realising that starting your family now has become that much more complicated.

It is important to remember that a diagnosis of BRCA1 or 2 gene mutation does not mean you will definitely get cancer.  It does increase your risk, but other factors need to be considered as well.  Genetic testing tests for one mutation only.  Someone is either positive or negative – that cannot change over time.

Results will be one of the following:

Positive meaning the person carries the gene mutation.

Negative meaning they do not have that particular gene mutation.  It does not rule out mutations in other genes.  Breast and other cancers can still occur because most breast cancers are not hereditary.

Ambiguous or uncertain, meaning that a mutation has been found but it is not known whether that mutation has any affect on the chances of developing breast cancer.

If you are diagnosed positive of a BRCA1 or 2 or PALB2 gene mutation, you have a higher chance of developing breast cancer, and are more likely to develop it at a younger age.  Estimates vary depending on the source.  Women with BRCA1 or 2 mutation can have a 45-65% chance of being diagnosed with breast cancer before age 70.  PALB2 mutations have a 33% chance.

You can reduce your risk by doing the following:

Have regular health checks including examining your breasts monthly including if you are a male.  Early detection of breast cancer is of utmost importance.  A screening plan will be developed by your doctor including more frequent screening starting at a younger age.  You should have regular skin checks as well.  In my case it is six monthly because of the high risk of melanoma in my family.

Regular screening for females includes 6 monthly to yearly mammograms, ultrasounds and MRIs of your breasts.  Males should be screened for prostate cancer as well.

Reducing Your Risk

Your doctor may prescribe risk reducing medications.

An option many females are choosing is risk reduction surgery to remove breasts and ovaries.   Because the chances of developing breast cancer are so high, many women undergo prophylactic surgery to remove the breast tissue before cancer has a chance to develop.  This is called a bilateral prophylactic mastectomy.

Removal of ovaries and Fallopian tubes may also be done because this can reduce breast and ovarian cancer risk.  This procedure is called bilateral salpingo-oophrectomy.  Prophylactic surgeries reduce the risk by about 90% but they can’t eliminate the risk entirely.  Prophylactic surgery has other implications.  It can mean that fertility is affected if the ovaries are removed.

Making Decisions is an Individual Choice

All of these choices should be weighed up before you make any decisions.  Getting advice from medical professionals with experience in genetic risk is important.  It is also an individual choice – what is right for one person may not be right for someone else.  Results can impact many life decisions.  A genetic counselor can help you to look at the implications of your results.

The choices available to you may be limited to what is available in your area.  You may not live near to specialists who will do prophylactic surgery like mastectomies.  There has also been a delay in surgeries because of the pandemic.  Many hospitals are only able to treat patients with cancer at the present time, not high risk patients.  Because of social distancing some screening clinics have been affected in some areas.  This could mean delays which is really frustrating but it’s just one of the effects that the pandemic is having on life as we know it.

My advice is to do your own research.  Read as much information as you can.  Be informed so that when you do see medical specialists you have a good idea of what to ask.  Join support groups as well.  I learn a lot from other people in my position.  Links to support groups can be found on Midlifestylist.com. 

What Influenced My Decisions

Your decisions will be based on your individual circumstances.  For example, ten years ago I wouldn’t have done prophylactic surgeries because I was a single parent and did not have the means to have time off work or pay for the surgeries.  I had just been through some major heart issues so I was not up to going through anything else at the time.  When I was diagnosed with BRCA2 last year my sons were adults, I had a supportive husband and was more financially secure.  I was also in my 50s so I felt the pressure of not wanting to delay it any longer.  I had had nearly every member of my family diagnosed with cancer so the fear of cancer was foremost in my decisions.

The Impact Of A Positive Result on Other Family Members

Getting a positive result can also impact other members of your family.  I talked to my sons about what the implications of my positive result meant for them.  They both want children one day so their decisions around that would be affected if they also tested positive.  I told them that they would need to tell their future partner and that some women might not want to take the risk of having children with the gene mutation.  My sons’ main concern at the time was for me.  And naturally they were anxious about inheriting the gene mutation themselves.

I told my siblings and nephews very shortly after I told my sons.  My siblings have a 50% chance of inheriting BRCA2, and their children had a 25% chance based on my diagnosis.  I have not yet told many of my cousins who have a 25% chance of having the mutation.  This is because the last year has been very difficult for me due to multiple surgeries and a long recovery.  Now that I am past the worst of it I will let them know.  The cousins I have discussed it with so far would rather not know – many of them are head-in-the-sand types.  That is their choice but they also have a right to know so that they can research it and decide for themselves.

If you have recently been diagnosed with a gene mutation you might already have been in contact with a Family Health Centre.  You will probably receive referrals to a breast surgeon and gynaecologist.  You may feel like you are being rushed into making decisions.  Don’t rush your decisions, and get second opinions if you need to.

Worst case scenario and your diagnosis will come as a result of a cancer diagnosis of yourself or a close family member.  My heart goes out to you and it may seem superficial for me to say, but I do know how you feel.  It’s gut wrenching so I wish you all the best for the future.

Further Information

My next episode will focus on melanoma.  Many people, even those with a BRCA 1 or 2 gene mutation, are unaware of the increased risk of melanoma and other cancers.  My son Jordan was diagnosed with a melanoma at age 24.  He will be coming to the studio to talk about melanoma and share some important information that everyone should be aware of.  

For further information about BRCA gene mutation 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.  A transcript of this episode is available on the website.  You can contact me via Midlifestylist.com 


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


13 responses to “What To Do If You Are Diagnosed With a BRCA Gene Mutation”

    • Thankyou so much Sue. It definitely makes a difference when you have been through it yourself. I’m glad my message is coming across clearly and it means a lot to have your critique. Take care, regards Christina


  1. Hi Christina, This is an amazingly complete post. Thank you for sharing it. I also like that you have a latest blog post button on your home page. It is so frustrating to me when people don’t have a way to see their latest posts! BTW, speaking of breast cancer, do you know Abigail Johnston? She also shares a lot about breast cancer and is in stage 4 but doing well as of the last blog post I read.

    I have chosen this post to link to your name on the June Story Chat attendance roster. Thank you so much for commenting on Debbie’s story. It was great to have you take part in Story Chat. 🙂


    • Hi Marsha, thank you so much for your great feedback. I really appreciate that you took the time to write that. I don’t know Abigail Johnston, but I’m happy for her that she is doing well in her breast cancer journey. Thank you as well for linking my post to the June Story Chat – that is awesome and much appreciated. Regards, Christina


  2. I understand the passion you have for awareness raising and doing the right thing as best as you know. Wonderful work Christina. Thank you.

    Thank you for linking up for #LifeThisWeek. Next week, we reach the midway point of the link up with Optional Prompt: 26/51 Optimism. Mr W is back with this one! It’s always great to see your post and comments, I appreciate that very much. Denyse.


Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.

%d bloggers like this: