BRCA gene or mutation?

[Frenchhouse3]

Hi ladies, I found out today that I don’t carry the BRCA gene and yet my tumour contained a BRCA 2 mutation ( which luckily made me eligible for Olaparib as a maintenance drug). Can anyone explain how the tumour can contain the mutation when I do t carry the gene? I’m intrigued and a bit confused by this.

Denise

[Lyndy]

Hi Denise

I don’t really know the answer but this is definitely a thing that the tumour can have the genetic fault while you do not. It is all about how the body ( or just the tumour) makes bad copies of the body’s cells and fails to recognise that they should be destroyed.

Glad you qualified for a parp inhibitor on this basis... best of luck xx

[Frenchhouse3 in reply to Lyndy]

Thank you so much for your reply Lyndy, that does make sense. I’m so relieved to get the PARP inhibitor and thankful that I won’t have to worry about my children inheriting the gene now. ( Although, I do think it’s good to be forewarned if they were to have it).

Denise xxx

[mrstadpole]

Hi Denise

If your tumour is BRCA 2 + it means that only the DNA within the tumor has a mutation.If you are BRCA 2+ then every cell in your body will contain the altered gene which can be passed on.

Ann

[Frenchhouse3 in reply to mrstadpole]

Hi Ann, thank you for explaining this so clearly, I feel better knowing what this means.

All the best

Denise xxx

[JayGeeCee]

Hi Denise,

Same here. I was told my blood test came back as negative- I was so relieved that my girls didn’t have a greater chance of developing oc . Then a few months later at a consultation with my oncologist she said that if I had a recurrence I would have Olaparib. I was confused ( I live in France and consultations are in a mix of French and English & my French is far from fluent.)It took a bit of unpicking to ascertain that my tumour was BRCA positive and my family and I had an worrying few days thinking I had the BRCA gene.

I have no understanding of the why’s or wherefore’s either.

Stay well

Joy

[Frenchhouse3 in reply to JayGeeCee]

Thanks for your reply Joy, it’s a strange situation for sure! I was so worried about my children carrying the gene too but I guess we’re very lucky because we do qualify for Olaparib still. Phew!

Stay well too Joy

Denise xxx

[Newbie_2020]

Hi Denise, Thanks to @mrstadpole explanation, I was wondering if you've both now had further explanation/confirmation to the difference in the mutations between the BRCA results from the blood test and those for the tumours'? What I read was that the tumour mutation could be either somatic, non hereditary, or BRCA mutation ie germline (which could still be passed on to offsprings.

I also hope that you are doing very well on Olaparib.

[Frenchhouse3 in reply to Newbie_2020]

Hi there, to be honest, I’ve never really asked about it. I only asked people on here if they knew and was happy with the answers I received, although still slightly confused!

I’m pleased that I don’t carry the mutation in my blood line as this means my children won’t be at high risk but grateful that my tumour had the BRCA mutation as it meant I qualified for Olaparib.

I get on pretty well with Olaparib on the whole, I just have to be careful with what I eat as too much fibre gives me diarrhoea. ( ( I have a stoma too which can be affected by fibre intake, though when I’ve had the odd week off my drug to take antibiotics, I didn’t experience any diarrhoea).

However, it’s a small price to pay for being able to have this marvellous drug!

I take iron water supplements every other day as I get a bit anaemic and these seem to do the trick and keep my HB levels stable.

I don’t suffer fatigue and only occasional mild nausea, so I’m very lucky.

Hope this helps.

Kindest regards

Denise xxx

[Newbie_2020 in reply to Frenchhouse3]

Thank you, Denise, and I hope you'll keep well.