I’m wondering if anyone had their tumour tested positive for BRCA1/2 mutation, but your genetic test (via blood/saliva) tested negative? And if so, did your oncology team explain what that means especially regarding if it puts you at a higher risk to develop breast cancer.
At my recent oncology appt (1yr since last one & thankfully 5yrs NED) I was told although I tested negative for BRCA1/2 it could be that my tumour was somatic BRCA. It is only recently that tumours (in Australia anyway) are now tested, so mine wasn’t. The oncologist just kind of mentioned this in passing as we were having lots of different discussions about what is happening now re treatment options etc. I didn’t think too much about it, but the last couple of days it’s got me thinking. I will follow up and get clarification from the oncologist, but cannot do that until early next week. So in the meantime would be keen to know if anyone else has been told this.
Many thanks 😊
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ruthg55
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Hi Ruth, I’m awaiting genetic testing results, my situation is very similar to yours too, re spread etc, so I’ll let you know if this turns out to be the case for me too. My sister was diagnosed with breast cancer a year ago so I’m thinking we could have the BRCA gene but apparently this doesn’t mean we have a high chance as no one else in our family have had these type of cancers. Anyway, I’ll let you know if it turns out it’s just the tumour that’s positive. Sally x
Thanks for getting in touch. I also thought I might have had the BRCA mutation as my mother had breast cancer (we are the only ones in our family to have had cancer) but as I mentioned my genetic test was negative. Sorry to hear that your sister has also been diagnosed. Hope she is doing well and everything works out for you too. Ruth x
What a coincidence Ruth, I heard back from genetic testing this afternoon and I don’t carry BRCA or any other gene mutation. I’m still awaiting the genetic profile of my tumour but it was very small and my oncologist said they may not be able to glean any info from it but I will let you know as soon as I found out. It astounds me how a tumour can be only 4mm but cause so much trouble, just goes to show what an aggressive disease this is. Also the word “occult” is very apt, mine really didn’t want to be found as apparently mines a non-secretory one too 🤬, CA125 never been above 10 🤷♀️
I guess not carrying BRCA mutation is good in that you have one less thing to worry about. Gosh your tumour was tiny. I had large ones on each ovary (about 9cms & 7cms & CA125 of 970). That can be tricky if your CA125 is not good indicator, but to be honest I knew something wasn't right when I had recurrence even before my CA125 level was checked & PET scan to confirm. Hopefully something you'll never have to go through again. Keep well 👍☺️
Yeah my nurse said I would know if it comes back, but I didn’t know I had it in the first place 🤦♀️. So did you not go on any maintenance therapy after your chemo?
No maintenance therapy after chemo, but I had combination of IP (inter peritoneal) & IV chemo after surgery (2015). Then when I had recurrence in 2018 it was surgery only and no further treatment.
Well interestingly, one of the chats I had last week with the oncologist was about IP treatment. He was telling me they hardly do it now, one of the reasons being the much higher toxicity levels and it only seems to be more effective in optimally debulked patients with tumour size less than 1cm remaining. It also involved an overnight stay in hospital plus treatment was 2 consecutive weeks with one only one week break. Think it is more popular in the US. x
Hi. I am somatic brca1 which is a plus because it meant Olaparib worked well for me but there’s no hereditary risk or special risk of other cancers. I however have another hereditary mutation, PALB2, so I do have to worry about those things.
Many thanks Delia for replying. I'm now understanding that it's only the DNA in the tumour that mutates, so much better, and a little less to worry about. I'm sorry that you also have this other hereditary mutation. Hope that there is some type of preventative monitoring and it never eventuates. All the best! Ruth x
Hi Ruth, I have had a BRCA2 positive tumour but do not carry the gene.
My oncologist said this was the best scenario as I was eligible for Olaparib but would not have to have mastectomy or have other family members tested.
I’m currently four years NED. ( I was stage 3c Fallopian tube cancer ).
That is me too. It is the best option as the tumour cells respond well to the PARP inhibitors being BRCA +ve especially the 2 variant. Not being in your germline means no increased breast cancer risk and most importantly if you have children no chance of them inheriting it.
We are in the small 5-7% I think group in this ‘fortunate’ group.
I’ve got the somatic ( in the tumour only ) BRCA 1 mutation too . Obviously, I was pleased to tell my children and grandchildren that the risk was not genetic . My oncologist was very clear in saying to me that my risk of developing breast cancer was the same as anyone else’s risk and not linked to the ovarian cancer .
As others have said , being able to benefit from Parp inhibitors is a big plus in our cases .
Questions do keep popping into our heads all the time and there’s absolutely no harm in asking them
Thank you Karen, appreciate your reply. Maybe my tumours were somatic BRCA. This is the thinking of the oncologist since I've had long period of NED and he said (as others here) that if that is the case then there are more treatment options if required. Hope all going well for you too. Ruth x
I was diagnosed 3c HGSC 2019, tested BRCA 2 somatic (in tumours) only. Responded well to treatment followed by Olaparib for 2 years. So far, all good. Recently had a mammogram and clear. Told no special tests re: breasts, every 5 years only mammogram as not in ‘at risk’ category. Glad to hear you are doing well and NED after 5 years.
Thank you so much for replying. Everyone has put my mind at ease re no special tests (but I will still call oncologist next week). I usually have mammogram every 2yrs here in Australia. Good to hear you are also doing well All the best! Ruth x
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All the best! Ruth x
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