@BreakfastClub80
My family history is pretty clear cut - maternal grandmother died from BC in her 40s, paternal aunt died from BC in her 30s. My father, his father and his father all died from pancreatic cancer. Add in we're of Ashkenazi Jewish descent and that already gives a 1 in 40 chance I would have a BRCA mutation. The fact I have mutations on both BRCA 1 and BRCA 2 is something no-one has seen before.
Give my genetics, my oncologist said that they would have thought my cancer would be triple negative, not hormone fuelled. I quipped 'give me time', and to his credit, he laughed albeit nervously.
For me, there's just no merit having preventative surgery as it doesn't remove the risk, particularly with regards to pancreatic cancer which scares me far more having seen my father succumb to it. Also, give both BRCA mutations, I'm at a greater risk of cancer full stop, so where does one stop removing bits/having risk reducing surgery, particularly as it can still spread to my brain, bones, lungs etc, the latter of which was how my mother died - lung cancer. And besides, chemo puts me at risk of cardiac arrest, no HRT brings more likelihood of heart disease. And even if I somehow miss all this, I could be hit by a bus tomorrow. Seriously though, I consider myself fortunate inasmuch as I do not have children so don't have to worry about potentially having passed my BRCA mutations on. My sister has tested negative, so she's fine, and by aunt's children don't have any BCRA mutations either. What I would be interested in knowing is if both my parents had both mutations, or if my mum had one and my dad the other, or just one of them had both mutations. There's no way of knowing sadly. But it's still fascinating trying to figure it out. I look forward to talking to both Great Ormond Street and the man at Guy's about my double BCRA - they're thrilled to have found me. Ha! Still, at least I'm of use now.
PS. Yes, there are other genes, something like 200 hundred of them. The main ones they tests for are BCRA 1, BRCA 2, PALB2 and another whose name I can't recall. IIRC, my surgeon told me that when they look at genetics, they look for any mutations on these genes, and if you have something they haven't seen before, or one of the many lesser mutations, they make a note and file that data away for future use. There's so much they're still discovering about genetics and cancer(s). Because the BCRA mutation is so rife in the Jewish community, that's why they're made so much research in that area as the inordinate amount of deaths from breast, ovarian, prostate and pancreatic cancer in this community made scientists start to study them, and why they discovered the BRCA mutation. Over the next decade, am sure they'll zone in more genes to test. But, it is still worth considering that testing and risk-reducing surgery only does so much. Even after a mastectomy, chemo and radiation, I will still have to check that (missing) breast for nodules or any other signs of the cancer recurring. And it's this really that stop me having the other breast removed until something actually happens.
Fingers crossed you're clear from BCRA and any other mutations.