What Is a BRCA Gene Mutation and How Does it Increase Cancer Risk?

Multiple coloured cancer awareness ribbons

Transcript of Podcast Episode 1

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 counselling 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.

Episode 1

This episode is an Introduction to the Midlifestylist BRCA gene mutation and cancer awareness podcast. 

The Topic of this episode is What is the BRCA gene mutation and how does it increase cancer risk?

Welcome to the first episode of my podcast.  I am passionate about raising awareness of the BRCA gene mutation and cancer risk.  I have been a Registered Nurse for 35 years and have cared for patients with cancer throughout my career.

I was diagnosed with the BRCA2 gene mutation in February 2020.  My personal journey has featured in many of my blog posts in my website Midlifestylist.com.  I have found very few podcasts about BRCA and decided to make my own.  This podcast will not only be about my journey, but also will provide information about BRCA gene mutations.

In this episode I will explain what a BRCA gene mutation is, and the implications for carriers.  I will talk about cancer risk, and how a BRCA gene mutation increases the risk of several types of cancer.

Firstly, What is a BRCA gene?

BRCA is an abbreviation for BReast CAncer gene.  The BRCA gene mutation was discovered in about 1994, and through research, the knowledge about how it increases cancer risk has expanded greatly.

BRCA 1 and 2 are tumour suppressor genes – they repair our DNA.  When we have a BRCA gene mutation, this ability to repair DNA is faulty.  Everyone has BRCA1 and 2 genes.  They play a big role in preventing breast and other cancers.  They help repair damage to DNA that can lead to uncontrolled growth of tumours.

BRCA1 and 2 gene mutations are rare.  Only 0.25% of people carry them, or about 1 in 400 people.  They can be passed down from parent to child.  If I have a BRCA 1 or 2 gene mutation my children have a 50% chance of inheriting it.  Men and women are affected equally.  It is important to note that a gene mutation does not guarantee that you will get cancer.  Other factors such as lifestyle and environment play a part as well.

What type of cancers have an increased risk in BRCA1 and 2 gene mutation carriers?

The lifetime risk of breast cancer in the general community is around 1 in 7 or 12-13% for women, and rare in men – about 1 in 675.  Having a BRCA1 gene mutation increases your risk to 60-80% in women and 1-5% in men.  A BRCA2 gene mutation increases women’s breast cancer risk to 40-84% and men’s to 5-10%.  

BRCA 1 and 2 gene mutations increase your risk of developing breast cancer, and at an earlier age.  The cancer is more likely to recur, and be the most aggressive kind. People with BRCA1 gene mutations are more likely to develop triple negative breast cancer which does not respond to hormone therapy or certain drugs. Treatment will be different than for other people because of this.  Chemotherapy is more effective at treating it than other types of cancer.

Breast cancer patients with BRCA1 or 2 mutations are more likely to develop a second cancer either in the same or opposite breast.  Removing both breasts would usually be recommended.

Other Cancer Risks

There is also an increased risk of developing other cancers such as ovarian, primary peritoneal, pancreatic, prostate and melanoma.  BRCA is thought of as a female cancer gene mutation, mainly increasing the risk of breast and ovarian cancer but it can also increase men’s risk of prostate cancer and male breast cancer.  And in both sexes the risk for pancreatic cancer and melanoma increases.

The lifetime risk of ovarian cancer in the general community is about 1 in 75.  Having a mutation in the BRCA1 gene increases the risk to about 20-45%, while a BRCA2 mutation increases your risk to about 11-27%.  

These statistics are estimates only and vary depending on which source they come from.  My personal risk is 20-40% chance of getting ovarian cancer and 60-80% chance of getting breast cancer.  Because my dad had pancreatic cancer my risk is increased, and because melanoma has affected 3 close family members including my son, I am at high risk of that as well.

People with a BRCA1 gene mutation have a 2-3% chance of getting pancreatic cancer.  Those with a BRCA2 gene mutation have a 2-7% chance.  People with a BRCA2 gene mutation also have an increased risk of prostate cancer and melanoma.  Prostate cancer is particularly alarming at a 15-25% risk.  Because many people aren’t aware of the increased risk of these other cancers they may not have the necessary screening.  Men are also at a disadvantage because most people do not know that a BRCA1 or 2 mutation affects them as well.

The Risk to Male Carriers

In some families the gene mutation is passed through the male line so it may not be identified as quickly.  When a large number of female relatives have breast or ovarian cancer it raises questions as to whether there is a hereditary link.  Because of Angelina Jolie having BRCA1 and undergoing prophylactic surgery, there is often the belief that BRCA gene mutation only causes breast and ovarian cancers.

Men with the mutation can be left out in the cold.  The colours for BRCA are pink and teal which are feminine colours.  More awareness needs to be made of mens’ risk because their cancers are often diagnosed at a later stage.

In my family prostate cancer has been passed down through three generations that I know of.  I inherited the BRCA2 gene mutation from my father who had prostate and pancreatic cancer.  It also affected my grandfather, and my brother is currently undergoing treatment for stage 3 prostate cancer.

Melanoma also affects my family – brother, sister and son have all had melanoma.  These lesser known cancers need to have more of a spotlight on them and that is what I hope to do with my blog and this podcast.

There are other gene mutations that can cause cancer, such as PALB2, CHEK2 and others.  Knowing your family history is important because awareness can lead to early detection and treatment of cancer.

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

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.  

If you are interested in reading more on this topic, visit the BRCA gene mutation and cancer awareness resource page.

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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