Cancer and the Genetic Lottery

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Only about 5–10% of women with breast or ovarian cancer carry an inherited mutation called BRCA1. I spent a month waiting for a phone call that would tell me which group I belonged to.

Because I’m relatively young to be dealing with ovarian cancer, my doctor sent me for genetic testing about a month ago. A genetic counsellor sat down with me and went through my family’s cancer history. They needed to know what types of cancer had occurred, how old people were when they were diagnosed, and, where relevant, how old they were when they died. On my mum’s side, we know of three cases for certain. On my dad’s side, two. After that, I met with the doctor, who explained how everything worked.

I learned that BRCA1 and BRCA2 are genes that all of us have. Their job is to help repair damaged DNA. If one of those genes carries a mutation, that repair system doesn’t work properly, which increases the risk of developing certain types of cancer. A positive result doesn’t mean someone will definitely get cancer. It just means the odds are higher.

If a parent carries the mutation, there’s roughly a fifty-percent chance of passing it on to a child. Even among people who develop cancer, only about ten percent carry a BRCA mutation. The doctor told me she didn’t really expect my results to come back positive, but we discussed what it would mean if they did. Then they took my blood, and I went home.

A month later, my phone rang.

Unknown number.

“Hello, this is the genetics department. You were here about a month ago for testing, remember?”

“Of course.”

“We told you the mutation wasn’t very likely, but in your case it has been confirmed. That’s why I’m calling.”

When I was first lying in hospital and nobody knew exactly what was wrong with me, one doctor gave me a five-percent chance that it was a strange infection rather than cancer. Right up until the end, I hoped I’d fall into that five percent. Lose one ovary, recover, move on with life. That wasn’t my lottery ticket.

Apparently, this one was.

I’ve never won the lottery before. Not even a few hundred crowns. Yet somehow I managed to squeeze myself into that ten percent. The doctor asked whether I wanted to discuss everything immediately or whether I preferred to wait for my oncologist. She could see in the system that the timing had worked out quite well and that these results were arriving just before my final planned chemotherapy session and upcoming scans. We’d already discussed most of the important information, so I told her an envelope with the results would be enough.

She also arranged testing for both of my parents so we could determine which side of the family the mutation came from. I have a half-brother who has a daughter. If the mutation came from my mother’s side, they should be tested as well so they can find out whether they inherited this little family gift.

My son won’t be eligible for testing until he turns eighteen because informed consent is required. That still feels a little strange to me. Nobody asks an eighteen-year-old for informed consent before childhood vaccinations. But that’s how the system works. For now, we’ve filed that information away somewhere in the back of our minds, where it occasionally resurfaces to cause anxiety.

We’ve decided that if needed, we’ll arrange testing for my son later, once we’re back living in China or Thailand. At least then we’ll know. One small piece of good news is that BRCA1 is most strongly associated with ovarian and breast cancer, which means the biggest risks don’t directly affect him.

If I had a daughter, the conversation would be very different.

That doesn’t mean BRCA1 is completely irrelevant for men. It can increase the risk of certain cancers later in life, including prostate cancer. It’s simply a somewhat more favourable situation than it could have been. The geneticist also reminded me of something I hadn’t really considered. Even if my son remains healthy, he could still pass the mutation on to his own children one day. If he had a daughter, her risk would be higher.

So I’m very much hoping this particular family curse ends with me.

For my own treatment, however, the result may actually be helpful. A BRCA1 mutation opens the door to more targeted therapies, and potentially more effective ones. That includes platinum-based chemotherapy, which I’m already receiving, and PARP inhibitors. These drugs block the tumour’s backup repair system and are designed to target cancer cells more specifically while causing less damage to healthy cells. They’re taken as tablets rather than infusions.

And, as a bonus, my hair might finally start growing back.

Exactly what happens next depends on my scans and on the decisions my doctors make over the coming months. The mutation significantly increases my risk of both ovarian and breast cancer. Practically speaking, that means I’ll almost certainly need my remaining ovary removed. The official term is bilateral oophorectomy, which sounds much more impressive than “removing the second ovary.” That surgery will trigger surgical menopause before I even turn forty, followed by hormone replacement therapy. At that point, there probably won’t be much reason to keep my uterus either, so a hysterectomy will likely be part of the plan. Preventive mastectomy is also commonly recommended for women with BRCA1 mutations, ideally followed by reconstruction.

Who knows.

With all the bad luck I’ve had lately, maybe I’ll finally get a decent cleavage out of the deal. 🙂

It actually fits quite well with my general philosophy in life. If I’m going to do something, I prefer doing it properly so I don’t have to come back and do it again later.

So, in a strange way, I’m okay with that.

I do sometimes wonder whether I’ll end up feeling a little… edited.

Trimmed down.

Emptier than before.

But alive.

That’s the important part.

For now, though, the next step is simpler.

One more round of chemotherapy.

And my first major scans.

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