BRCA1 & BRCA2 Its all down to our Genes?

Life – Terror. Ecstasy. Fight. Denial. Flight. Failure. Forgiveness. Reconciliation. Hope. Love. Peace – Death.

Post Genealogy Screening Results

My aim for Genealogy Screening was to establish a baseline that might help to forewarn (and) protect my son, daughter and grandson (and future grandchildren) in years to come. However, I did also have more than a mild curiosity in relation to my ancestral makeup.

Who doesn’t?

The results were far more surprising than I expected.

The fun bits first.

I am 99.9% European (overall)

29.7% Scottish – I am more Scottish than anything else.

I had always assumed that as my grandparents (mums side) were visibly Irish (Lafferty), and Welsh (on dads side) Reynolds – that I could have a fair bit of the old Irish about me but Scottish? WTF?

…..and not even a dot of Welsh?

29.5% German I am more German than I am English and nearly as much German as I am Scottish. WTF?.

How?

Apparently, from my dads side?

As children, growing up, ‘we’ Carol and I experienced regular, routine, parental conflict more or less on a weekly basis. Mum liked to ‘go out’ Dad did not. They would fight about it, all the time.

Most nights of the week, certainly every weekend mum would go to the pub.

Those days opening hours were less flexible and she would arrive home between 11.00 and midnight. Depending upon her mood she would either sing from the bottom of the stairs to us (upstairs), or she would perform from the front step for the neighbours. On occasion she would also voice her ‘neighbourly issues’ telling whoever she was currently annoyed with why? ‘Calling them fit to burn’ the saying goes?

Sometimes her behaviour would spill over into physical violence between dad and her and in the very worse of times, spill over to us.

It was more like restraining than violence, I cannot recall ever seeing dad hitting her. She would push and push him into a reaction. He would most days be working the next day and he could not sleep. same for Carol and myself, we had school.

Everything became even more exasperated around holiday time, Christmas Easter. As a child, from around aged 6-12 I did not look forward to Christmas as I knew what was instore. As carol became older she would stay at friends houses and I would be farmed out to Aunties, uncles and cousins. Dad would go to his mums leaving our mum alone.

Worse case she hit him on the head with a milk bottle. Hospital. Stitches.

I was hit in the mouth with a small plate (thrown at dad) splitting my lip and damaging some teeth.

During which, I recall mum fighting with dad and calling him ‘a German headed Bastard’? This was a regular ‘insult’ said with venom usually when she was very very upset (and drunk). She would however, include vague references to, alleged ‘German’ ancestry on his mums side. I think maybe her mum or dad might have been part German.

21% English – I am significantly less English than I am German or Scottish!

10.4% Iberian – I do recall some references to wealthy Spanish relatives on my mums side but nothing more specific or enlightening.

8.9% French – Literally no clue. I do like France though……

0.4% Swedish – Ditto, no clue.

The six million dollar question?

Who will I now support in the 2021(22) European Championship Finals? Germany? or Scotland, or England (who are in the same group)?

Now for the ‘less’ serious stuff!

A somewhat surprising (medical) predisposition result.

Today I had a series of scans, in assessment for qualification for an immuno therapy trial. This emanated from a recent, scheduled consultation with a specialist nurse where I expressed an interest in identifying and undergoing any such trials.

If you don’t ask you don’t get?

Based on my 5 year cancer profile I had expected, after this appointment, that I would commence a new phase of active treatment, hormone and or chemotherapy. Recent research suggests an early combined chemo plus hormones approach rather than the established ‘norm’ of hormone followed by chemo could prolong life expectancy by an average, additional 15-17 months.

I had considered this research (STAMPEED) and I was fully prepared to discuss the merits and negatives of either strategy. I was, however, pleasently surprised to hear my PSA had risen by only 11%. I was expecting my now, normal increase (previous 6 times) of between 30-35%.

Based upon this the consultation took a very different turn.

I had also been researching Immuno therapies and treatments. In particular gene and immuno mapping in relation to cancer treatment but also as a safety net for my daughter, son and new grandson. All of which has led me to this point, a potential trial that I literally do not have any information about but which I will know more about on April Fools Day! Latest Scans – Results day! Unfortunate date.

I am primarily interested in my BRCA1 and BRCA2 genes, to establish if there is any mutation which would indicate potential hereditary genetic prostate mutations for any close relatives (son, grandchildren). Recent Geno mapping indicates that I do not have any hereditary predisposition to prostate (and breast cancer). This is encouraging for any close relatives as they would not either. Result.

The cells in our body undergo a daily cycle of DNA damage and repair. In a normal day, the DNA in each cell can be damaged between 1,000 and 1,000,000 times. We’ve evolved very efficient ways to either repair the DNA or destroy the ‘broken’ cells. One of these repair mechanisms are controlled by the BRCA1 and BRCA2 genes.

I have mentioned some of this data in previous posts, however, it might be worth reconsidering especially as now I have some actual practical context to frame it within. Mutations in BRCA1 and BRCA2 genes do increase the risk of developing prostate cancer.

However, having a mutation of this type does not mean that you will get cancer – it just increases your risk compared to people without a mutation. Forewarned is Forearmed.

Results released at the ESMO 2019 conference in Barcelona showed breast and ovarian cancer has similar genes to advanced prostate cancer, specifically, BRCA1 and 2, as well as other genes. Treatments directly targeted at repairing BRCA mutations PARP inhibitors (drugs like olaparib) can be accessed on clinical trials. There are a number of trials which are testing olaparib at different stages of treatment that I am interested in.

This research programme is part of a much wider study – the STAMPEDE trial framework, and there are over 100 hospitals all over the UK involved in this clinical trial. Any man who meets the eligibility criteria can ask his oncologist to be referred onto the trial. I have asked my oncologist, hence my recent scans to assess eligibility.

For more information about the inclusion and exclusion criteria for the trial call the specialist nurses on 0800 074 8383. As the trial widens to test treatments in men with specific genetic changes driving their cancer development, recruitment to those trials is beginning to happen.

Testing for BRCA 1 and 2 mutations?

Men with a strong family history of breast, ovarian or prostate cancer, or who have a family member with an (confirmed) BRCA mutation can be referred for genetic testing on the NHS. This isn’t available everywhere in the UK. There are also private clinics that will test without a GP referral. 

Is there any evidence that BRCA1 or 2 mutations affect prostate cancer prognosis?

recent study looked at the effect of BRCA1 and 2 mutations on prostate cancer prognosis (the predicted outcome of the disease). This study looked at men with prostate cancer and compared those with a BRCA1 or 2 mutation and those without. The scientists found that prostate cancer in men with a BRCA1 or 2 mutation was more likely to be aggressive and to spread beyond the prostate. 

The researchers suggest that this could mean that men who are known to have a BRCA1 or 2 mutation when they are diagnosed with prostate cancer should be treated as high-risk immediately. 

Based upon my Geno mapping I do not have any BRCA1 or 2 mutation.

Mapping suggests that I have a 0.24 % chance (predisposition) of developing Prostate cancer compared with the ‘average’ 0.55 % (A 0.44x chance).

Less than half the average?

Surprising?

Fuck yes! Absolutely, seeing as though I already have piss-take cancer!

Questions?

How come I have Prostate Cancer then?

Clearly, there are other factors involved with contracting (any) cancer.

Question?

Is the testing (results) reliable? Might they have somehow missed it?

I don’t know. However, some of the other indicators within the report make 100% sense.

If it turns out I am eligible for the Trial (I find out next week ), then I will be retested, it would be interesting to see if there are any consistencies and or anomalies?

The other startling result thrown up….

Heart attack. I am 57.36 % predisposed to having a heart attacked compared with the average 12.0 % A whopping nearly (4.78x) five times more likely than the average Joe!

What next?

I have shared those results with my son and daughter (aged 38 and 33). Forewarned is forearmed.

I will discuss the heart result with my GP ASAP

I hope to somehow get on the immuno trial.

Several immunotherapy options are currently in clinical trials. Options include the development of potential Cancer Vaccines.

  • Sipuleucel-T (Provenge®): a vaccine composed of patients’ own immune cells, which have been stimulated to target the PAP (prostatic acid phosphatase) protein highly expressed on prostate cancers; approved for subsets of patients with advanced prostate cancer

Other possibilities include Immunomodulators.

  • Pembrolizumab (Keytruda®): a checkpoint inhibitor that targets the PD-1/PD-L1 pathway; approved for subsets of patients with advanced prostate cancer that has high microsatellite instability (MSI-H) or high tumour mutational burden (TMB-H)

If you don’t ask you don’t get?

Personally, I will try anything and everything…..to live.

Thanks for reading.

Peace.

Published by Riff

Husband to my inspirational, (long suffering) wife, father of two amazing (adult) children, teacher, former guitarist (now guitar owner), recent 'granda(r) to my beautiful grandson who I am yet to meet. I Love people. I love my family, my friends, I love(d) what I do (my Job), I love Music, Cars, Everton .... I love many things, most of all I fucking love 'life'.

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