I thought that knowing I had the ‘cancer gene’ would cast a shadow over my life. Now I have it, I realize how wrong I was

The results of the genetic testing were not really surprising. My mother died of breast cancer in her mid-30s, and I recently had it confirmed that my great-grandmother on her side also had it on her death certificate.

But when I was diagnosed with triple negative breast cancer last yearthey are most likely related to a gene mutation – I was hoping it wasn’t inherited. Partly because of what it means to my relatives, partly because of what it means to my children and their children, and partly because I didn’t like to think that what I was going through was through now many inevitable from the moment I was conceived, and I did not make any effort to find out about it.

Only 5% to 10% of breast cancers are believed to be hereditary, but if you have a mutation in the BRCA1 or BRCA2 gene, your chances of getting the disease will be much higher. With my BRCA2 mutation, the chance of developing breast cancer by the age of 80 is about 70%; in the general female population, the chance is only 12-13%. With the mutation I carry, I have a 50% chance of passing it on to my children.

Until last year, I had no idea about this. I might know – the information is out there. But, despite what happened to my mom, I never really looked into it. And no one suggested that I should – except my grandmother. She insisted I get checked out after suffering a breast abscess when I had my son in 2010. I had a mammogram and met someone who asked me about my family history. At that point I only knew for sure that my mother died of it; my grandmother and her sister were still fighting appropriately, and it was decided that there was nothing to worry about.

Three years later Angelina Jolie discovered she had the BRCA1 gene, and decided to have a double mastectomy. The story topped the news, and was written about for days afterwards.

Despite what happened to my mom, I didn’t look into it. And no one suggested that I should – except my grandmother

I thought about it fleetingly. Should I ask a doctor if I can, or should, be tested? But I was more concerned about what I would do with the information. Do I have to declare it to insurers? Currently you don’t have to disclose a positive test result, but I doubted that could change.

Would I ever want to have preventative surgery (the double mastectomy that Jolie chose was, and still is) the only option? And, probably, I was worried about what the knowledge would do to me. If I didn’t have surgery, would I panic at the first sign of a twinge? Would I live in the shadow of fear? Would I make myself sick in some other way? Would it add more stress to the decision to have more children?

So I continued, blithely ignorant. And by the time I saw the stats, there was a 100% chance I would have gotten it.

Now, of course, I look back and ask why I didn’t do things differently. Given my mother’s age when she died, I should have qualified for an NHS test, but I didn’t know that. Even after having cancer, I’m not sure I would need a mastectomy in the first place. If I had found out I had the gene in my 20s, I would have known my chances of getting cancer in my 30s and 40s, not just by the time I was 80. Fortunately, that kind of information is available for testing now.

If I had found out in 2010, when I had the mammogram, I wouldn’t have needed preventive surgery because I was hoping to have another baby, and I wanted to breastfeed again.

But I could find a regular screening. During Covid, there was a chance it would have been cancelled, so I could have been in the same position I am now. But there is also a chance that my cancer would have been removed earlier, and that would have caused less anxiety and pain. I was in physical discomfort by the time I went to the doctor, and when I was diagnosed, my immediate impression was that it had spread. For more than two weeks, while doing tests, I was convinced that it had traveled to my brain, and would tell me that I only had months left. I could have avoided that heartache if I had known he was caught early.

I am suddenly relieved not to have a daughter, but I know my son has a 50% chance of inheriting the gene. If there is, it increases the risk of breast, prostate and pancreatic cancer later in life, and will certainly add its own concerns. But treatment is progressing quickly, so I hope it won’t mean difficult decisions for him.

So, too, is the support structure for people with the mutation. Before and after my test, I had phone appointments with the genetics team at Great Ormond Street hospital in London, and they talked me through what it was all about and offered referrals if I wanted to find out more. Cancer charities have lots of information for those affected, and across the country there are support groups for people with the mutation. I haven’t joined one yet, but I plan to.

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Finding out about the mutation was a blow, despite all the reasons I had to doubt its existence. But the knowledge allowed me to make decisions about what happens next. After the genetic test results came back, I was offered another chance at breast cancer. The software said I had an 81% chance of getting it again by age 80, and a 35% chance of it happening again in the next 10 years.

With those odds, it’s no surprise that doctors have recommended a double mastectomy. And, while it’s still scary to sign up for it, the statistics tell me it’s the right thing to do. I don’t want to put myself or my family through this again if I can help it, and 35% is too high for me.

And it empowered the people who are treating me – new, targeted drugs are coming on the road for people who carry the mutation and aim to stop the cancer from coming back. Now that I know how powerful knowledge is, and that there is support, I wish I hadn’t waited.

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