Braca testing and Parps

Hi Ladies, I requested a braca test from my Oncology Nurse by phone and she told me that there was no point in me having the test because my type of Ovarian Cancer will not respond to Parps. It is the first time I have heard this. I was originally down for Parps after my next course of Carbo whenever that will be. Could some one advise please

[Lindaura]

Dear Suzuki,

I would ignore this remark and go ahead with a private BRCA Test through 123&me or another geneology genetics testing lab. Cost us about £179.

This way you will get results right away, as compared to waiting months for getting the test and waiting more months for the result.

You need to know about the mutation for many reasons, including your risk of other related cancers, like breast cancer.

You need a second opinion about the PARPS.

This is all mystifying.

But persevere,

Best wishes,

Laura

[bex68 in reply to Lindaura]

23andme only tests for a few of the BRCA genes common amongst the Ashkenazy Jewish population. There is much more comprehensive breast and ovarian cancer genetic testing available in the UK privately that would give more comprehensive results. It’s expensive though.

[Lindaura in reply to bex68]

I would advise only using the 123&me for the BRCA test while waiting for your NHS Test. Mine took 7 months to get an appointment with the Bristol lab, even with my sister testing positive for BRCA1, so I had the test run in the USA for $139. That test, the Color test, tested for all mutations, but I only tested positive for BRCA1, as did my daughter. Everyone else in my family, including my mother, took the same inexpensive test and all were negative except my sister with breast cancer. It came through my father, who had died young from a brain tumour.

When the lab here finally called, we brought our results to them and had a lovely consultation in Bristol, but by then we had already had counselling through the Color company.

I just advise the 123&me test to get a quick answer to the BRCA Problem, while waiting for the UK genetics labs to catch up.

I think it is criminal that all women are not tested routinely, as there are so many with an unknown heritage, either because of adoption or conversion.

Best wishes,

Laura

[RonLitBer]

I think that a germline BRCA test allows you to notify your family members (if you have the mutation) so that they can decide what to do in that instance.

I would also not just do a BRCA test but would add the other mutations that are now being tested in regard to an increased possibility of getting ovarian cancer (amongst other cancers as well).

This is the current gene panel that is being tested in the hospital I go to: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM*, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2*, PTEN, RAD51C, RAD51D, STK11, TP53. Again, finding out if you have a germline mutation in any of these genes allows you to notify family members that may also be affected.

[Lindaura in reply to RonLitBer]

Actually, I had all these tested for and had a telephone consultation with a genetics counsellor with the Color Lab from San Francisco, when I visited there in June, 3 months after finishing first line treatment, because I had not yet received an appointment for the test from Bristol Genetics after my Oncologist asked for this in January, 2018.

My close family is filled with daughters and we have Ashkenazy Jewish heritage and my sister in the USA, suffering her second bout of Breast Cancer had been tested immediately in LA and proved to be positive for BRCA1.

Genetic testing is genetic testing and the labs are recognised by our doctors here in the UK, where my daughter was fast tracked into risk reduction surgery on the basis of the test results from the USA.

It would be great to get the test from your hospital here, but this slow or non existent system cannot be depended on.

We have to take things in our own hands and lobby for our best care.

And you need to find out what basis your nurse had to say PARP inhibitors would not work for you.

Best wishes,

Laura

[thomas62 in reply to RonLitBer]

Hi againRonLitBer

Would these gene panel apply to low grade serous ovarian? Thanks. Gwen x

[RonLitBer in reply to thomas62]

Yes, hi again.

We have talked about this extensively on a previous thread. I think you need to find out the various options that are available to you. I did mention some low grade mutations in the previous discussion and you indicated that you were aware of them particularly the BRAF and KRAS mutations which happen in low grade and would be tested for. Also PIK3CA. A low grade panel would have some of the genes I mentioned but also different ones as well and I can't go through them to indicate to you which are applicable to low grade specifically. What is tested for varies depending on where you get it done and I imagine the cost if it is not covered by a health plan. The list I provided is covered by our health plan where I reside. I also previously made available the following site:

tempus.com/genomic-sequencing/

They do extensive testing from 596 genes, 1,714, 20,000 to 20,000 (full genome). There is a payment involved.

[thomas62 in reply to RonLitBer]

Hi RonLitBer,

Thanks for your patience. Gwen x

[Maus123]

I wouldn't stop there, Suzuki. Is it really the nurse who makes that decision, and therefore possibly the treatment decision? Better approach someone else if you can. Your oncologist, a second opinion oncologist etc.

Or you could go for a private test, as Laura mentioned. Although I think they don't test for that many mutations, so keeping the limitations in mind is useful. Specifically 23&... test mainly for 3 BRCA mutations common in Ashkenazi jews I believe. I've still had their test, myself, because I could at the time not get my oncologist to agree to get a more extensive test here.

Their BRCA test didn't show any mutations, but I did learn that I'm apparently resistant to caffeine, to some of the common PPIs (Omeprazole etc), and genetically closer to a neanderthal than 95% of my fellow men and women.. uh oh.. me bash cancer.. ugh.

Still interesting though, I thought, as I learned about a number of other possible hereditary/genetic risk factors. But those were also unrelated to OC.

At the moment, I'm holding my guns until the next recurrence. At that point, I'll push (and have, mark my words ) for an extensive genetic test in order to look for compatible trials.

Luckily mine is a lazy, slow growing cancer that hopefully will allow me the time to do so before treatment starts.

Hope you're holding up ok and the pain is controllable. Hugs. Maus

[thomas62 in reply to Maus123]

Hi Maus, Suzuki and other ladies here.

God forbid you have a recurrence. But if you decide to go for extensive genetic testing could you please report these results on this site. Like you I am low grade serous.

Suzuki, I agree with Maus you need to speak to your onc/consultant abt. genetic testing. Mine is type that doesn't respond to parps but my onc. still let me have genetic testing.Even if your onc. agrees then it's upto the geneticist as to whether there's enough family info to warrant a test. It was only when I mentioned the possibility of Ashkenazi Jewish link in my family did she decide a test was warranted. My family history was not loaded with cancer. Ladies with low grade to not generally have a germline mutation for BRACA1/2. The Genetic testing did indeed show I wasn't BRACA1/2 as did the testing I had done through 123 and Me - this was a spit test not a blood test. Hope this info.helps.

Good luck and best wishes. Gwen xx

[coksd]

Hi yes your nurse isn't qualified to make that judgement I hope you got on well with your oncologist. Are they talking about any further sterostatic at this time or will they go with Carboplatin for treatment as this is a platinum therapy and if you have been treated with three or more chemotherapies and disease comes back you may be platinum sensitive and be entitled to Olaparib I think this came into effect late last year.

I was refused further platinum therapy in limerick last October and given 12 months to live as was deemed platinum resistance and only offered gemzar or caelyx that only carried an 18% chance of working. I went on to Dublin and the oncologist felt I was platinum sensitive gave me cisplatin and I showed response so I am now on Olaparib. My Old CNS also said I couldn't have BRCA testing as I had no family history on diagnosis and also they stopped me going forward for the prima study last year when the trial for Niraparib was running. They insisted on avastin that didn't work for long for me. There is the oncofocus test that tests for mutations also. Do keep trying. I am not sure if there is a cost involved but some insurers cover it in the mater, the oncofocus isn't covered and costs around €1800.

[Hidden in reply to coksd]

Thank you for that it seems from the responses I have had, this is a big issue. I did ring the Mater today but got onto the public Clinic, they suggested I get my Oncologist in on this and submit a form and a detailed history from me to Mater Private. Yes my insurance will pay and I believe this Prof has done a deal with them and he has reduced his consult fee into the bargain. In answer to your question, I am between a rock and a hard place right now. My petscan shows tissue change but they are not sure if its changes from the treatment, there is also a new area of concern so they are hoping that I will be considered for further treatment in the Beacon, here comes another fight with my insurance company maybe. My Onc refused to make a call on it so has sent scan and mri to Dublin. In the meantime I am neither here nor there. I might pm you to see where you got a second opinion if you don't mind thanks

[sticky3006]

Hello Suzuki,

I agree with all of the above. You need to have a test done regardless of whether your cancer is receptive to it or not. It will determine future care and treatment for you. Push hard for it. I can't understand why some professionals don't bend over backwards to push for tests and treatments which are so important. Yet again it highlights why I feel we lag behind other countries with our survival rates. I asked my CNS last week about going on a trial (Icon9) if and when I recur. I was told that going on a trial is complicated and they are often difficult to get on. Thats not what I want to hear. I want to hear that if its in my best interests then everything will be done by my team and myself to get me on a trial which may help me and other sufferers in the future. Grrr!!

Good luck,

Sticky77

[thomas62 in reply to sticky3006]

Hi sticky3006

I totally agree with you. We have to be our own advocate and push for what we thinl/know is best for ourselves. Best wishes. Gwen xx

[IrishMollyO]

Hi Joan

I have read all the excellent replies so far and I thoroughly agree with all of them so just want to add my few comments.

A CNS should not have any say in whether you have a gene test or not. Your oncologist or consultant is the only person who tells you this and they must give you a proven explanation as to why not! I too have been given questionable information as to why for instance standard treatment wasn't given to me after an N E D of nearly five years. Carbo only three years ago resulted in a recent occurrence in the same lymph nodes . After a change of oncologist I am now being given the same combination that now includes the TaxoI. I was told by this same CNS three years ago it was too toxic for me. Needless to say she is not my CNS anymore! Most CNS s are wonderful but their authority should never be the final decision when it comes to your life.

I was able to get a genetic test through my breast surgeon after my year ago skirmish with breast cancer. I had no family history but because B C and PPC can be connected she agreed that it may help with what future treatment would be available to me. At this stage had been told that it was a new primary. It look quite a good few months for me to be called and months later for the results and as others have advised you don't want to be waiting that long and there seem to be quicker ways of going above it. My results were negative so I'm not sure if I would ever qualify for PARP but I'm glad got the right person to ask as I know well my CNS would never have even discussed it with me!

I just want to wish you all the best and hope that you get through all obstacles that you are encountering at the moment. We are all behind you. Take care and God bless. X.X

💚💕

[Neona]

My surgeon referred me for gene counselling immediately after my operation. However the counsellor decided I didn’t need the test as clear cell dies not normally have a brca mutation and because Ihad no family history of cancer. Could you ask for gene counselling on NHS - it is not a test but just a prelim to see if you qualify for one?

[Rlenesue]

I wasn't aware of this, either. Perhaps there is something else they can administer for your ovarian cancer. Much luck Suzuki!xxxooo

[Hidden]

I am astounded by the excellent advice given here and the amount of replies, I want to thank you all for being so kind to reply. I did take the bull by the horns today and rang the genetist nurse in a Dublin Hospital, It would seem I can apply because of family history and newer history that came to light in past few months. They will examine my issues and see if family history is enough to get the testing. My health insurance will cover it and the consultant in question is so passionate about this subject, he reduced his fee almost a year ago. So this is not going to go away at all. This is also available in Mater Public but there is a long waiting list. AT the present time I am waiting for my scan to be reviewed by the Oncologist who gave me treatment in June at the request of my own Oncologist. I feel the wait is ridiculous. Hopefully they have this letter tomorrow by the latest. I would hope to hear in about ten days. Thank you all again

[Naimish]

All the best Joan. The Teal sisters have once again given invaluable and sane advice. Couldn't agree with them more.

Naimish

[Artgreen]

Good luck with this and thanks for asking the questions, it is making me realise it isn’t just me whose low grade serous but not getting much joy on trying to get genetically tested. It doesn’t make sense to me not to just in case as family memory about large family members’ deaths which may be over 40 years can be inaccurate. I’m chasing my oncologist to see if it can be done privately as apparently genetic testing isn’t done here in Swindon.

Very best wishes

Alex x

[RonLitBer]

Suzuki, the fact is that low grade has a lower incidence of BRCA mutations does not mean that they do not happen in low grade--they do. The last bit of information I got was that it was 10%. Based on this, I would imagine that if you had the mutation it would mean that PARPs would possibly be effective. That would contradict the comment made by the oncology nurse.

[coksd]

Please do keep us posted on how you get on, Here in Ireland we have about 9 national cancer centers and the information between them vary a lot, Even a patient above after getting refused gold standard treatment for recurrence of carbo/taxol to be told by a CNS its too toxic and then to get it at the same center at a later stage for recurrence. There needs to be more education on options to patients similar to the chemo education they need to start speaking about parb inhibitors and letting patients know their rights to access this drugs and when they can get them. Gene testing should be available and access on how to start the process.Oncologists should discuss this and answer all questions to patients. I don't know my BRCA status and I am on olaparib.

There are options and even we see the turn around from ultimate persistence of patients with cervical cancer and pembro in the last year in Ireland. Another option is having the PDL1 status checked from original biopsy block to see is the tumour reads over 50% which will show the drug pembro can be effective. This will probably not be mentioned to patients unless they ask as it is not funded or not standard treatment. It would be great if the drug company MSD would run a trial on this with the PDL1 status.

Another point I must highlight my original biopsy block was suppose to be at my hospital where I was diagnosed but was sent to St James at the time and when my new oncologist was looking for it a year later - we were told it wasn't available turned out it was still in St James and they ended up using it for the PDL1 test.

There has to be more communication between hospitals and oncologists.

We are all supporting you. xx

[Hidden]

Your points are extremely valid. I think you are right we have to fight to be heard. Maybe the nurses do not like us having knowledge or joining groups that will give us knowledge. I am not letting this go away. If I am recalled to Dublin, I can always ask the Radiation Oncologist and get referral from him for the testing. I have been mulling over what to do. I will wait and see what this Prof comes up with if anything and take it from there. I haven't been on to my gp yet as I expect it will take him a few days to hear from my Cork Oncologist. My biopsies would go back to 2006 so I doubt if they have samples from them. Funny thing the horrible pain has stayed away now for two to three weeks. My hip is sore and stiff but the cold weather is not helping either. I got out today and yesterday. I am wearing the compression for the most and the swelling is certainly less. I can go back to the OT whenever I want but I have stopped the physio as I feel no point for now. I am glad I did physio for a month or so. I was so frustrated not being able to walk without that pain hitting me. I can walk now, I am stiff and the hip feels weak which is to be expected. I will keep you updated. Thank you so much again