It was just about a year exactly from finding out I carried the BRCA2 gene mutation to having my double mastectomy and reconstruction. Whilst the decision for me was clear, I wanted to minimise my chances of developing breast cancer via the most effective, drug free, route possible, I realise how lucky I am to have had the opportunity to choose in the first place.
So, how did I find out I had this gene mutation? Well, a few years back my sister and brother-in-law bought our family a 23&me test as a Christmas present, to delve into our genetics and DNA history and make up. When the results came back, we found new relatives all over the world, discovered our slightly Italian or Spanish ‘look’ was not even 0.1% linked to being any type of Mediterranean origin – we were 100% from the North of England! So despite my slight disappointment at not finding a long lost relation in Capri, there wasn’t much to note that we didn’t already know.
It was another few years before I got the email telling me I had an urgent update to my profile that didn’t look like the other 23&me notifications I’d left unread. This arrived in October 2023 and changed the course of the year to follow, and quite literally my life from then on.
In true ‘me’ style, the research started. What was BRCA2? What did this mean for me, my family and my son? For those of you that are just starting your BRCA2 mutation research or are just curious, here’s a summary of what it is and what it means for the mutation carriers {all information will highlight source. Please ensure you get all your information relating to your personal medical circumstances from your licensed healthcare professionals}
BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
People who inherit a harmful change (also called a mutation or pathogenic variant) in one of these genes have increased risks of several cancers—most notably breast and ovarian cancer, but also several other types of cancer (1, 2). People who have inherited a harmful change in BRCA1 or BRCA2 also tend to develop cancer at younger ages than people who do not have such a variant.
Source: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet – USA specific.
I found The Royal Marsden NHS Foundation Trust the most useful location for (UK Specific) information on BRCA2 and what this means. Here is a handy information booklet that goes into detail:
Armed with this information and knowledge of my family history (my mum had breast cancer at 45 and both my maternal and paternal grandmothers passed away from female related cancers) I embarked on a year-long journey which consisted of a lot of doctors appointments, meetings with surgeons and other health and wellbeing practitioners to ensure I was making the best choice possible for a cancer-free future. I hope my story and the resources and recommendations I share here are useful for those going through a journey similar to mine, or a completely different battle altogether.
Danni xx
I am not associated with any of the above companies and do not receive any payment for sharing this information with you.
My Mastectomy 