Acquired BRCA (not germline) + RECQL

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Ashlyn
Ashlyn Member Posts: 141
edited May 2018 in Genetic Testing

I am just putting this out there incase someone else has had similar...

I was negative for the hereditary BRCA mutations (cin 2012 and again in 2017) but found out that my tumour has a BRCA signature. It is neither BRCA1 or 2, but has a high HRD (homogolous recombination deficiency) and as a result I would potentially be able to try a PARP inhibitor down the road (I'm now stage 4 five and a half years out from my stage 2 dx) It is an acquired BRCA meaning it is not germline/hereditary. Kinda blew my mind a little bit when I found out in November.

I was also told I had a VUS (variant of unknown significance) in the RECQL gene. Whether this is related to the BRCA signature I am not sure. I'll be learning more about this soon when I see my MO.

Just curious if anyone else has been told they have either a somatic (acquired) BRCA or RECQL gene variant?

Thank you,

Ash

EDITED in May 2018 to add that the high HRD was explained by further genetic testing that found a PALB2 mutation with exons 9 & 10 deleted. Inherited from my Dad’s side of the family of Czechoslovakian origin we believe.

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  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited January 2018

    Hi Ash - wow - that is really crazy. I’m so sorry about the dx. Did anyone in your family test positive for a mutation before you were tested?



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  • Ashlyn
    Ashlyn Member Posts: 141
    edited January 2018

    Hi Farmer... no one has been tested. (I only have one relative, a Grandmother, who had breast cancer. But she was DX when she was in her 70s.) And because nothing was found in my blood it is not believed to have beenpassed on to me.

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  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited January 2018

    Really unbelievable. My mom had it at 27. I have no known mutations. You probably know about http://www.facingourrisk.org

    Maybe someone there would have some answers.

    Sound like you’ve seen some impressive geneticists. I might be able to ask my friend who did Brca research and is now a practicing gynonc - it’s my brother and he does not appreciate me bugging him w medical stuff - but oh well.

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  • Ashlyn
    Ashlyn Member Posts: 141
    edited January 2018

    thanks farmerlucy.

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  • theresa45
    theresa45 Member Posts: 314
    edited January 2018

    Hi Ashlyn, I am on a PARP inhibitor trial for talazoparib. I do NOT have a BRACA1/2 mutation. I have a germline (hereditary) mutation of CHEK2. I have only been on the trial for 3 months. My first scans were relatively stable. I will be scanned again in the middle of February. I had some initial nausea when I started the trial, but have minimal side effects now. My WBC, RBC, and platelet counts have declined somewhat, but are still fine. I'm just passing on my experience with PARP inhibitors for what it's worth. :) Theresa

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  • Ashlyn
    Ashlyn Member Posts: 141
    edited May 2018

    hi Theresa

    Thanks for your comments. I don’t know why I missed them. How are you doing on the PARP trial?

    I found out through further genetic testing that I have the PALB2 mutation. Which explained the high Homologous Repair Deficiency and the BRCA signature aspect. PALB2 is “Partner and Localizer of BRCA2” so the puzzle pieces all make sense now. The issue will be finding access to a PARP trial in Canada down the road. I’m currently on Ibrance and Letrozole for lung mets. Stable afternoon 3 months and stable-ish afternoon 6 months

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  • theresa45
    theresa45 Member Posts: 314
    edited May 2018

    Hi Ashlyn,

    I am still on talazoparib (PARP inhibitor) on the TBB trial. I'm on my 8th month. Talazoparib has kept my mets stable with some regression in SUV levels. It's being called "stable disease with metabolic response." My side effects are minimal now. I feel a little nausea some mornings, but never have to take anti-nausea meds. My appetite is normal. My WBC has been low, but is not not low enough to reduce the dose. My platelets and RBC have decreased, but they are just a little lower than the bottom of the normal range. I don't feel overly tired. From a side effect standpoint, talazoparib has been an easy treatment for me.... accept the first few weeks when I was nauseous. I know of two small PARP inhibitor trials that are focussing on patients with BRACA-like mutations who do not have BRACA1/2. The TBB Trial at Stanford only. The other trial just opened and is testing Olaparib for the same population of patients. The information is here:

    https://clinicaltrials.gov/ct2/show/NCT03344965https://clinicaltrials.gov/ct2/show/NCT02401347


    I hope that you have a long run on Ibrance/Letrozole. Letrozole alone worked well for me for 15+months. I then switched to Ibrance/Falsodex for 4 months which did not appear to work at all. I have an RB1 loss somatic (in tumor) mutation which some researchers believe makes Ibrance ineffective. Another researcher mentioned that my genetic CHEK2 mutation may have something to do with why Ibrance was not effective. They don't really know. Next I went on the TBB trial.

    Hope this information helps!

    Theresa

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