Genetic test results (or not?)

[Benkaymel]

I've been waiting 6 weeks for the results of genetic tests of my prostate tumour biopsy sample and blood to see if I qualify for the Amplitude clinical trial. They finally came through today but were disappointing in that they have told me very little! (Apart from I'm not eligible for the trial).

The tumour sample apparently failed the lab QA check so was untestable and the hospital sent the best quality sample they had. Ugh!

The liquid biopsy result was 'Negative' for Biomarker, BCRA1 and BCRA2 Status. All Genes listed in the Variant Report (BRCA1, BRCA2, BRIP1, CHEK2, FANCA, PALB2, RAD51B, RAD54L) had an 'Alteration' of 'None'.

However, genes BRCA1 and FANCA had "Variants of Uncertain Significance" whatever that means! Also, the report said that the BRCA1 variant is not present in population databases (gnomAD no frequency) - I must be pretty unique I guess!

I was hoping the results might help determine future treatment options for me but I think they are totally unhelpful unless anyone can tell me otherwise?

Thanks for any insights ....

[Shooter1]

I also tested negative for any actionable variations.. Good news in that my cancer should be less aggressive , but don't qualify for special treatments... Tested again after 4 years with neg. results and mutational load on only 0.42% and again after 5 yrs+ with mut. load of 1.4%, still very low and non actionable... Now if I could just get my aPca to slow down.... PSA has been climbing 75-90% per month since May until I started BAT and 300-400 % per month for the last couple of months... next month should show what is really going on with 3rd injection and PSMA scan.... I feel good though and have no bone pain even with 6 bone mets showing on last scan...

[Benkaymel in reply to Shooter1]

Thanks Shooter, I hope the BAT treatment starts to show positive changes for you soon.

[tango65]

It is not a bad thing to have a cancer without these mutations. Several of the mutations which are actionable favor the reproduction of the cancer cells and the cancer may be more difficult to treat.

[Benkaymel in reply to tango65]

Thanks Tango.

[tango65 in reply to Benkaymel]

Best of luck with your treatment.!

[meowlicious99 in reply to tango65]

> . Several of the mutations which are actionable favor the reproduction of the cancer cells and the cancer may be more difficult to treat.

Learn something new every single time I am here.

I wan to learn more about this if you have any reference links. Thank you !

[tango65 in reply to meowlicious99]

This is some info about p53 mutations. RB1 and PTEN mutations also favor multiplication of cancer cells by different mechanisms. Some advanced PC may have these 3 mutations.

ncbi.nlm.nih.gov/pmc/articl...

You could search about these mutations in PubMed

pubmed.ncbi.nlm.nih.gov/adv...

[Tall_Allen]

You are not alone. Genomic tests are unhelpful for most PCa patients. It is also very common to get an unusable tissue sample, especially if the metastasis is small.

Only certain mutations in those genes predict whether PARP inhibitors will be effective. But genes have thousands of bases and there can be mutations in any of them. In fact, all of us have some mutations in most of our genes - most are harmless. When they do trials for PARP inhibitors, they can only test for the most popular mutations.

[Benkaymel in reply to Tall_Allen]

Thanks as ever for the reality check, Allen.

[Gabby643 in reply to Tall_Allen]

thanks T A

[Benkaymel]

Thanks smurtaw, no details of TMB or MSI were in the report.

[Benkaymel]

Thanks Pickle, I was certainly apprehensive about the trial seeing all the potential adverse SEs of Niraparib, but the decision has been taken out of my hands now anyway. I was probably unrealistic in my hopes that the genetic testing would help steer treatment for me.

[Benkaymel]

Thanks, I've seen differing reports on whether SEs are worse with Zytiga or Xtandi - everyone seems to be unique about this. Also, I've read that Zyt->Xta is better than the other way round but either way, there seems not to be much PFS when the two are used sequentially. The Zyt->Chemo->Xta->Chemo->Zyt sequence sounds interesting though so I will discuss that with my MO.

[meowlicious99]

> I've been waiting 6 weeks for the results of genetic tests of my prostate tumour biopsy sample and blood

> The liquid biopsy result was 'Negative'

curious, did you also get a liquid biopsy in addition to the first two you mentioned.

There was also a trial that added parp regardless of repair status

healthunlocked.com/advanced...

[Benkaymel]

The liquid biopsy was from the blood sample.

[Hotrod65]

I was a lucky one, Genomic Sequencing thru Foundation Medicine identified myself as having a Hypermutated tumor Burden albiet im small cell Neuroendocrine differentiation, but matched me to 21 clinical trials at the time7 yrs ago and 2 PD1/PDL1 checkpoint inhibitors immunotherapy drugs of which we chose Keytruda...55 infusions over past 6 yrs and finished with treatment for 2 yrs now, I remain in Long term durable Clinical Remission NED for 8 yrs since diagnosis..never give up hope or the fight.

[Benkaymel in reply to Hotrod65]

Great to hear you're doing so well Hotrod.

[meowlicious99]

> . But for the most part, no mutations = good.

curious, Why is that good though. Doesn't that close some treatment options.

What is the benefit of not having any actionable[1] mutations .

1. I am assuming that discussion is only about actionable mutations.