I, I’ve recently had my genetic test results and was told that I have a variant in my BRCA2 but they dont know if it is what caused my cancer. I was just wondering if anyone had had a similar experience and what it meant? im going to see my genetic doctor on 21st may but have lots of questions in the meantime!
I was diagnosed with breast cancer at 29 and have no family history (except my maternal grandmothers sister diagnosed in her 60s) I had a mastectomy on my right breast last year. Luckily this had not spread to my lypmh nodes but I am now on 5 years on tamoxifen (nearly one year down!)
I have a BRCA1 Variant of Unknown Significance. Lots of cancer in my family on my Dad’s side so could well be a genetic component to all this.
My BRCA1 VUS is inherited from my father and I’ve been told that it may or may not be relelvant to my personal history of breast cancer. Basically there’s a fault with the BRCA1 gene but it’s not a fault that has yet been proven to be pathogenic. We are at the forefront of the research. I am a few years down the line with this and currently my case is reviewed every 3 years (or more frequently if I request it) when the geneticists access the latest databases and research to check if we’re any closer to knowing the significance of this particular variation.
In the meantime, I have used the evidence from my geneticist as leverage to access more frequent screening for breast cancer (and, in my case, screening for bowel cancer which is prevalent in my family) and to have a prophylactic bilateral salpingo-oophorectomy (an aunt died of ovarian cancer). I have recently asked for a review of my case with the geneticist and depending on the outcome may opt for a risk-reducing mastectomy on the unaffected side.
I hope your upcoming genetics consultation is useful, supportive and informative. I always write down all my questions before consultations and take comeone with me to write down the answers and as another sets of ‘ears’. Luckily my geneticist, at the Churchill, Oxford is very approachable and available (always returns my calls promptly if not available on the phone when I ring).