Hi
I have just had my genetics appointment and been told I have a significant risk of having a genetic mutation. Just wondering how many of you ladies who have the brca 1/2 gene are also her2+++ as I had read that it is uncommon to be both.
Thanks
Debx
Bump. Maybe if anyone is brca 1/2 and her- they could confirm that too to help get the whole picture?
Hello Deb!
I am 33 and ER+ and HER2+++. My mother had BC in her 30s and died in her 40s. My maternal grandmother also died of BC. My maternal aunt was diagnosed last year. That is all of the women on that side of the family. I got my BRCA results yesterday and was very surprised to hear I didn’t test positive for BRCA1 or 2. I met with a top geneticist who lectures worldwide on genetic testing for BC and other cancers (v happy to pass his details on - but you’d need to PM me) and he said that it is still very likely that it is a genetic fault in my family but unlikely to also involve ovarian cancer, which is obviously a relief for me, and also unlikely to be triple negative.
I am still going ahead with an elective bilateral mastectomy as he believes that given my age and family history that I would be at very high risk of developing a new primary (obviously assuming I beat this…). And with BC having impacted my childhood and adulthood so much I want to mimise the risk of going through this again and want to mimise my worrying levels.
So, the bottom line is that yes, they’ve identified the BRCA1 and 2 gene (quite a while ago now!), but they know that there are many other unidentified genes out there - so it’s important to take family history into account irrespective of the BRCA result.
Sorry if that doesn’t help much…!! But just sharing my tale!
x
Hi
Thanks for sharing. It is v complicated and your history certainly shouts genetics. I have a friend who is very similar to you- v strong history and brca negative. I am sure they will eventually discover many more genes. Will pm you for those details for future reference. Thanks Debx
Hi Midge
very few of my affected family history ladies are her 2 positive but a few are… we only started check her 2 status from 2005/6 but i have 8 who are her 2 + and of them only 2 are known BRCA mutation carriers and 1 of them is neg for hormones and the other is hormone pos… the others are all hormone pos bar one… and of the 6 who arent brca carriers… 1 wasnt tested but the other 5 were found not to carry a know gene change.
as sandytoes said that finding out you dont carry a gene means you dont have the same risk for ovarian cancer unless you specifically have a number of ovarian cancers in your family already. but a negative analysis doesnt change your risk it just means that it may still be genetic and as they find more information more gene changes may be identified in the future… there has been a trial going on since about 2000 trying to identify more genes but most of these have such a small impact on risk that you wouldnt routinely be tested for them.
as the techniques improve too they may identify changes that werent so apparent with previous testing and this is what happened to me as i tested negative with the techniques used in a research trial but then positive a few years later through the lab (the reseach now uses these newer techniques too).
the majority of people tested wont find any gene change… only 20% of those tested have a mutation and all those tested are high risk so have a significant family history or risk factors, some with very many instances of breast and/or ovarian ca still come back negative and im sure some of these cases with be found to have a gene mutation some time in the future.
are you having a mutation analysis done Deb?
Lulu x
Hi Lulu
Thanks for responding as I know this is your area. I will send you a pm
If that is ok.
Debx