Hi Ladies,
Can anyone shed light while I wait to hear from my genetic counsellor?
I have tested positive for both the BRCA1 and the BRCA2 mutations.
Does this mean I am more likely to develop breast and ovarian cancer than if I had tested positive for just one mutation.
I understand the risk of bc with BRCA/1 mutation is 65 % before age 70 and the risk of ovarian c is 15-30% before age of 70
and that the risk of bc with brca/2 is 45% before age 70 and the risk of ovarian is 5-30% before age of 70.
but what is the risk if you have both.
There seems to be nothing available on line on any of the respected BC site about this.
Sorry to hear you are brca positive. Do you know if either of the mutations you have are of unknown significance or if they are both pathogenic. Some changes in the genes are not known to cause cancer and are referred to as an unknown variant. It may cause cancer or it may not. Others are deleterious and ark know to be cancer causing. Only around 5% of all breast cancers are caused by a faulty gene so havingvtwo faulty genes us even rarer.
The rates of cancer are quite variable but can be as high as 80-85% chance of BC by age 80 for brca 1&2 and chance of ovca as high as 60% for brca1 and 40% for brca 2. If you have had 1 breast cancer your risk of getting one in the other breast is around 50% so regardless of whether you have two mutations or one it’s still a very high risk. Within each gene there are hundreds of mutations and some seem to causemore ovarian CAs where some seem to cause more BC but sometimes you can tell from looking at your famy history where your family lies.
I am brca2 positive and my family doesn’t really fit the normal brca pattern with 1 ovarian ca, 1 pancreatic ca and myself with bilateral breast cancer.
Hi Girls well after waiting for quite a while to get my results back from St Marys (I really did have to push a little) they have come back with the same result that Lulu mentioned ‘unknown variant’??? After reading the report I am not sure if I should be pushing for further tests on the gene? Best wishes with the chemo Lulu x
Lulu!!
thanks for your post.
it was a typo on my letter!! it said brca1/2 but i just heard back from genetic counsellor and she said I’m brca 1. I’ve never been so relieved to have a genetic mutation.haha.
thanks so much for posting a reply xx
LL ill speak more later as off to bed… but not muchg else they can do but if others in your family had bc they can test them for same unknown variant to see if they have it too in most cases they do not but there are new mutations turning up all the time.