BRCA and hereditary cancer risks: Jenny's genetic testing journey

When Jenny's aunt was sadly diagnosed with peritoneal cancer, she decided to have genetic testing. After discovering her own BRCA2 gene mutation, Jenny shares her story in the hope that it will empower more women to learn their hereditary risks and make informed decisions about their bodies.

My journey with the BRCA gene mutation started in April 2020, when my aunt was diagnosed with Stage IV primary peritoneal cancer. It was such an unexpected shock; she always seemed absolutely fine and led an active and healthy lifestyle. Her initial symptoms were just a pain in her side and greater urgency to go to the loo.

I hadn't even heard of peritoneal cancer. I discovered that it’s fairly rare and closely related to ovarian cancer, which my mum had in 2009. It also usually gets diagnosed in the advanced stages. She was told that there were so many tiny tumours the size of rice grains that she couldn’t initially have surgery.

When my mum got cancer, my aunt asked about genetic testing but was told she didn't need to worry.

When my aunt was diagnosed, we revisited the idea of genetic testing again, because her cancer was also in the ovarian cancer family. This was the first time I had heard of BRCA1 and 2 which, if mutated (or faulty) give you up to a 90% risk of a breast cancer diagnosis and up to a 60% risk of an ovarian cancer diagnosis in your lifetime. Men with either faulty gene have an increased risk of developing breast cancer, and for BRCA2 an increased risk of prostate cancer.

My mum contacted her GP and was referred to a genetics counsellor in Southampton. She had to fill out pages of family history and wait weeks for it to be processed. My aunt was then tested for the faulty genes which revealed that she carries a fault in the BRCA2 gene. My mum received a letter to say that because they are identical twins they have identical genes, so she will also test positive. She had a blood test to confirm it.

This now meant that my cousin, my siblings and I each had a 50% chance of inheriting the same BRCA2 gene fault. I wanted to be tested straightaway but I had an online counselling session first to discuss what it would mean. I had a strong gut feeling that I would have it, and I did. 

I prayed that at least my brother and sister wouldn't have it. But unfortunately, my sister also tested positive. My brother hasn’t been tested yet. My other aunt has since found out that she is also a carrier so there are now five of us in the family with the faulty BRCA2 gene; me, my mum, my sister and my two aunts.

When I found out, I just carried on working, thinking 'well I'm glad I know and that's that'. But it hadn't truly sunk in. I joined BRCA Facebook groups and followed Instagram accounts and realised that many were discussing preventative surgery- people who had had it, were going to have it, or their fears about it. It was only then that the reality hit me. 

I live in Bournemouth and I couldn’t find any BRCA support groups on Facebook for those in Dorset so BRCA+ Support Dorset was born. I aim to build a supportive and friendly community with a safe space to share thoughts, feelings, experiences, and concerns with others on a similar journey. I set up the group because I didn’t want people to feel like they were alone, so I’m hoping that we’ll all be able to meet in person when restrictions allow. 

I’ve had another chat with my genetics counsellor and I’ve decided to speak to a breast surgeon about my options.

My aunt is doing really well and is now in remission. Due to the BRCA2 fault, she has been eligible to take a PARP inhibitor to reduce the chance of the cancer making a reappearance. 

It is so important to keep checking your body and go to the doctor if something doesn’t feel right, no matter how small or seemingly insignificant. If you have a history of cancer in your immediate family, ask your GP about genetic testing. Knowledge is power.

To discover your own genetic risks of developing ovarian cancer, why not try our hereditary cancer risk tool?