Somatic Mutation

[SCWI]

Greetings everyone from cloudy Gloucestershire. Well after almost a year of cajoling my team (they kept saying it was not something they would normally undertake) and following advice from my second opinion Professor in London, I have finally had my original tumour tested for a somatic mutation. Apparently this only comes back positive for 10% of women with OC. I got a rather breathless call from my oncologist to say that it has come back positive, which I am rather amazed by. Anyway the good news is that as the mutation was only in the tumour itself, not in my genes, I don’t risk passing it down to my son or daughter. Also it will hopefully make PARP inhibitors like Niraparib and Olaparib more effective for me. It feels weird to be happy about having a mutation in a tumour but heigh ho, I’ll take it if it helps 😊. I would encourage other ladies to have this test if they think it would help to know this information. My oncologist also wants me to be retested for the gene mutation too in case there was an error, let’s hope not. Can’t believe the excitement I am causing. I wish I could get the chemo over with but my white blood cells and neutrophils are playing up on Carbo Caelyx so having a course of 2 Granocyte jabs to give them a boost. I would be interested to hear from anyone else with the somatic thing. Sophia xx

[SarahsJourney]

I too have a somatic mutation with the gene only in my tumour. Was a massive relief for me as it meant it wasn’t hereditary and so meant neither my kids would have higher risk.

I did have gene testing but only came back with one mutation whereas I believe some people come back with 30 or more! X

[SCWI in reply to SarahsJourney]

Thanks for replying Sarah. So kind of you when you are going through so much. Very interesting re the mutations, maybe I’m not rare after all. Sending you love 💕

Xx

[SarahsJourney in reply to SCWI]

No, I actually do think it’s quite rare to have this way. Let’s think of it this way in that we are both very unique!! xxx

[Hidden]

I too have somatic mutations, but not genetic, and was re-tested to confirm this.

I wonder whether it is really 10%.

So few of us do get tested for this (I only got mine because I signed up for a clinical trial), I'd have thought it was difficult to judge.

PARP inhibitors do seem to work quitewell with people with high HRD ( use search button to locate earlier discussions about this), albeit not as well as BRCA+.

Well, that's three of us in only 6 hours! x

[gwyn64 in reply to Hidden]

Hi SCW1, Sarah's Journey and Mac27,

How, where and what do you get tested for mutations? Also what is a somatic mutation?

Thanks in advance.

Gwen xx

[SCWI in reply to gwyn64]

Hi Gwen

A somatic mutation is a type of variant in your original tumour which is a little similar but different to the BRCA gene. Some ladies have the BRCA gene and it is passed down through families like Angelina Jolie’s for instance. This can make it more likely for someone to develop either breast or Ovarian cancer. This is why Angelina Jolie had her breasts and ovaries removed. Not everyone agrees with this course of action however. My second opinion Professor thought it was worth me having my original tumour tested for this somatic mutation because if you do have it, it makes sense to take a Parp Inhibitor such as Olaparib or the newer Niraparib following chemo as maintenance. Olaparib is only given to ladies with gene or somatic mutations as it is supposed to work better in this instance. Niraparib I believe is for ladies who have responded to chemo, ie are chemo sensitive and have had two or more lines of chemo. You don’t need to have the BRCA gene or somatic mutation for Niraparib, but it is supposed to be more effective if you have, and most effective as Mac27 said if you have the BRCA gene. You should ask your oncologist to get tested for the BRCA gene if you haven’t already. If that comes back negative you could then ask to have the tumour test which happens in Manchester if you feel it would be helpful, but bear in mind that only 10% of ladies with OC have this mutation allegedly. I think the company may be called Oncologica, but I am not certain. My oncologist organised it for me. I had asked my surgeon as he had removed the tumour but he dragged his feet over doing it. I don’t think this test is available on the NHS and may cost in the region of £400-£500, I have not received a bill yet, but I expect I will get one! I am hoping my insurance might cover it. I hope that answers your question, but I am sure there are other ladies such as Mac27 who are much more knowledgable about it than me. It may be worth googling it too. All best wishes. Sophia

[gwyn64 in reply to SCWI]

Hi Sophia,

Thanks for your comprehensive explanation. I have been tested for BRAC1 and 2 - they came back negative but no other testing. I shall hold onto this info and perhaps talk to the medic I see at my next review meeting.

Gwenx

[Hidden in reply to gwyn64]

Excellent answers already.

Genetic is something in you, your blood all the time. That is Angelina Jolie's case, and that of many other BRCA+ people.

Somatic is in the tumour, random variations, possibly including BRCA but a whole slew of other ones.

The quote I had was more like £800 and I don't think it was a very wide range of genes which were looked at. I think this is important with the way medicine is going, as it seems to me eventually we may get to a point where known variations in other cancers which can be successfully treated could form a basis for a more personalised approach, i.e. less "ovarian cancer" treatment with a sledge hammer one size fits all, than a more nuanced one to do with our particular profile.

My somatic test was done as part of a clinical trial, by Foundation Medicine and it looked at a lot of genes. It turned up 2 particular ones, and a slew of "variations of unknown significance".

[gwyn64 in reply to Hidden]

Hi Mac27,

Thanks for your response. I agree with you we need to know more about variations in our cancers so they can treat us in a more personalised way, now and in the future!

Gwenx

[Hidden]

Hello SCWI

I'm from Gloucester and have my treatment in Cheltenham. Can I ask are you treated here too as I am also very interested in the tumour testing. I have mentioned it to my team before but they are not interested in looking into it.

Many thanks Kerry

[SCWI]

Hi Kerry.

My lady oncologist had it done for me after my second opinion Professor in London suggested I had it done. Had asked my surgeon Mr. G with no luck. Do you have Dr. A.C.? It’s so worth getting it done. I think my health insurance may have paid for it, think it costs around £400 to £500. Good luck x

[SCWI]

Sorry, forgot to mention that yes, I am treated in Cheltenham 🤗