How well do you know your Family?

I had never heard of the BRCA (or ‘bracka) 2 gene until our Clare was tested positive for the BRCA2 gene mutation in 2016 following her breast cancer diagnosis in 2015. “Bracka who?” I said. I had no clue about what it was or what it meant other than you were at a higher risk of cancer if you had it. If I’m being honest I didn’t really register the implications at the time. It was only really when my parents both went to get tested followed closely by my siblings did I start to understand.

For a while I didn’t want to be tested. I asked Will and Clare whether they thought I was being reckless. I’m by nature quite laid back but my question was more concerned with whether I’d be doing anything differently? We’d all started checking our boobs more as a consequence of Clare’s cancer diagnosis so I was happy to not know. Plus I didn’t think living with a ‘high risk’ cloud hanging over me forever was any way to live. 

It was only until after we had Elsie that I realised it wasn’t my decision anymore. If you have the BRCA2 gene mutation you have a 50% chance of passing it on to your children. Of course we have Archie too, but for women the risk of developing cancer younger is far greater. Elsie is the first girl in our generation. We had Archie, and Clare and Rich have Samuel and Isaac. So it was a done deal and I was quickly referred by my GP to get tested. Thank goodness I did!

Since testing positive on 31 March 17 I have undertaken as much research into the BRCA2 gene as I am able to take. There is no ignoring this. I will have this gene mutation for the rest of my life. I’m not going to let it rule my life and I won’t allow myself to be totally consumed by it, that’s not a life worth living. But do I want to understand it? Absolutely. It would be reckless not to.

So, er, backtracking 18 months – what does BRCA2 mean again Clare? 😜

BRCA2: an idiots guide

I am going geeky for a while so please bare with me 🤓

• A gene is the basic physical and functional unit of heredity. 
• It is estimated that humans have between 20,000 and 25,000 genes. 
• Each gene is an instruction within our body. Changes in that instruction can affect how it works. 
• Every person has two copies of each gene, one inherited from each parent. 
• In humans each cell normally contains 23 pairs of chromosomes, so a total of 46. 
• The BRCA2 gene sits on our 13th chromosome 
• The BRCA1 and BRCA2 genes normally protect us against cancer – they correct any DNA damage that naturally occurs when cells divide.
• Inheriting faulty versions of the BRCA gene significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.
• The BRCA2 gene mutation has a 1 in 2 chance of being passed onto offspring. As a result, they are associated with cancers that cluster in families. However, not everyone who inherits a mutation in the BRCA2 gene will develop cancer.

My BRCA2 Family Tree

Below shows my current family tree on my Dad’s side. I’ve started to investigate this more as I begin to understand the importance of knowing whether members of the family carry the BRCA gene mutation. I’ve also looked at my Mum’s side too but it is my Dad who carried the BRCA2 gene mutation – so I wanted to explore down his line. My reason for doing this is to inform, educate and prevent for any future generations. Of course I can’t make anyone get tested, indeed I was originally one who didn’t want to get tested, but I can at least try to get in contact and let them know. That’s all I can do.

A huge thanks to (first cousin once removed) Bea in Australia for filling a lot of the family tree gaps 😘.

The unconventional family tree above (although incomplete) shows who’s been tested for the BRCA2 gene mutation long the Kane (my Dad’s) family line. We have good reason to believe that the BRCA2 gene mutation has come from my Grandad Joseph. My Grandma Martha was one of 4 but all her siblings died from heart or respiratory related diseases in their 60s. My Great Aunt Beatrice died at 43 from breast cancer which is in keeping with the characteristics of theBRCA2 gene mutation, and why I’m persuing this line. 5-10% of cancers are inherited, and some types – mainly breast, ovarian, colorectal and prostate cancer – can be strongly influenced by genes and can run in families so it’s really important to understand occurrences of cancer within both men and women in your family.

I have a bit more detective work to do regarding my Grandad’s siblings (in particular their cause of death). My Gynae Oncologist (Mr Hutson) is also really interested to understand the cause of death of my Great Grandad if I can find out. Mr brother John is in the process of being tested for the gene mutation, and both Jenny and Bea have recently been tested as negative which is great news. I’m keen to make sure remaining family members are at least aware. The only family member I don’t really have any contact with or access to is Eileen, who I believe lives in Australia so a bit more detective work is needed there.

All those family members with offspring have a circle against their name on the family tree. Regarding mine and our Clare’s offspring – Samuel, Isaac, Archie and Elsie can be tested from 18yrs. There’s a 50% chance they too will have the gene and it will be their choice whether they wish to be tested 😍.

Understanding your risk

It’s a common misconception that only women carry and pass on the BRCA2 gene mutation. Mainly because the risk of cancer diagnosis as a result of being a carrier is generally much higher for women when compared to men. This is simply not true. Each carrier has a 50% chance of passing the gene onto their child – as everyone receives 50% of their chromosomes from Dad and 50% from Mum. 

Having a faulty BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer (80%) and a man’s chance of developing male breast cancer, prostate and bowel cancer (40%).

Below are the important elements to look out for if you suspect you may have the BRCA gene mutation in your family:

1. More than 2 relatives on the same side of your family have had cancer – the same side of your family means either your father’s relatives or your mother’s relatives
2. The relatives have had the same type of cancer, or different cancers that can be caused by the same gene fault (ie breast, ovarian, prostrate, colon/bowel)
3. The cancers developed when the family members were young, below the age of 50
4. One of your relatives has had a gene fault found by genetic tests

Not everybody who carriers the BRCA gene mutation gets cancer – but you are at a greater risk. So for me now, I feel a sense of  responsibility in seeing through four main things:

• To continue my detective work with my family tree, which will help input directly into important ongoing research with my Genetic Oncology Consultant, Mr Hutson.
• To track down (where possible) untested living family members, to raise awareness of the BRCA2 gene mutation in the family so that future generations can be better prepared.
• To raise awareness of hereditary cancer in particular the BRCA gene, and the importance of knowing your family history.
• To understand and support ongoing research into the BRCA gene mutation, so that by the time Archie, Elsie, Samuel and Isaac are adults it’ll be better understood and controlled.

Wish me luck 🤞🏻

Liz Spice, 17 October 2017