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BRCA1 and BRCA2 Genetic Analysis

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User
Posted 20 Jul 2018 at 21:41

HI All,

Just reading a BMC paper on BRCA1/2 and a study on long term survival. Anyone had there status checked and switched treatment paths because of it. Would be great to know.

 

Base jumping without a parachute should be frowned at, never criticised. Fresh

User
Posted 21 Jul 2018 at 00:57
There aren’t any regular posters here that I can think of who have been tested positive for BRCA and I don’t think there are many members that have actually been tested. The estimate was that less than 5% of PCa is BRCA related although this seems to be quoted more often now as about 10% so there may have been new data recently. BRCA+ men tend to be treated more aggressively, as is the case with BRCA+ women.

It isn’t that easy to get the genetic testing - the patient often has to demonstrate a reason for thinking it necessary and also go through counselling first. There are also some unanticipated consequences sometimes from genetic testing although the Gov has tried to address a couple of those.

"Life can only be understood backwards; but it must be lived forwards." Soren Kierkegaard

User
Posted 21 Jul 2018 at 10:31

There are two ways in which you can have a BRCA1 or BRCA2 mutation. The first is germline, which means it was probably inherited from one parent, is present in all of your body cells, and can be passed on with 50% probability to the offspring, hence the need for genetic counselling. The second is somatic, which means that the mutation arose in the tumour itself, is not in the rest of the body, and cannot be passed to offspring. As LynEyre says, testing is not done routinely, and these mutations only affect a minority of patients. However, patients with one of these mutations (or in other related genes such as ATM) are responsive to a type of drug called a PARP inhibitor (example, olaparib) and there are several current clinical trials testing these in PC patients. To get on such a trial, one would be DNA tested, both a blood test for the germline mutation and by using a biopsy sample for the somatic ones. I've had this done myself and I'm on a trial at the moment.

As for survival, the jury seems to be out; I've seen at least one publication that says outcomes are similar with or without the mutation.

Good luck with everything!

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User
Posted 21 Jul 2018 at 00:57
There aren’t any regular posters here that I can think of who have been tested positive for BRCA and I don’t think there are many members that have actually been tested. The estimate was that less than 5% of PCa is BRCA related although this seems to be quoted more often now as about 10% so there may have been new data recently. BRCA+ men tend to be treated more aggressively, as is the case with BRCA+ women.

It isn’t that easy to get the genetic testing - the patient often has to demonstrate a reason for thinking it necessary and also go through counselling first. There are also some unanticipated consequences sometimes from genetic testing although the Gov has tried to address a couple of those.

"Life can only be understood backwards; but it must be lived forwards." Soren Kierkegaard

User
Posted 21 Jul 2018 at 10:31

There are two ways in which you can have a BRCA1 or BRCA2 mutation. The first is germline, which means it was probably inherited from one parent, is present in all of your body cells, and can be passed on with 50% probability to the offspring, hence the need for genetic counselling. The second is somatic, which means that the mutation arose in the tumour itself, is not in the rest of the body, and cannot be passed to offspring. As LynEyre says, testing is not done routinely, and these mutations only affect a minority of patients. However, patients with one of these mutations (or in other related genes such as ATM) are responsive to a type of drug called a PARP inhibitor (example, olaparib) and there are several current clinical trials testing these in PC patients. To get on such a trial, one would be DNA tested, both a blood test for the germline mutation and by using a biopsy sample for the somatic ones. I've had this done myself and I'm on a trial at the moment.

As for survival, the jury seems to be out; I've seen at least one publication that says outcomes are similar with or without the mutation.

Good luck with everything!

User
Posted 21 Jul 2018 at 11:31

Hi

my husband was tested for this gene because his sister was diagnosed with ovarian cancer at a very young age plus his aunts also died from ovarian cance.

as he was relatively young when he was diagnosed with prostate cancer he was counselled as part of a research program into breast and ovarian cancers . 

He did not have the BRACA1 nor BRACA2 marker so it was just sheer bad luck that he has prostate cancer 

User
Posted 22 Jul 2018 at 00:05

Thanks all for the feedback. 

The best articles/papers I hare read are from Ros Eeles/Elena Castro. Their studies (Marsden) summarised. With some info here BRCA Survival show a significant difference in median survival. There are trials ongoing but wondering if it’s worth getting tested. 

Already read your posts Lyn on the implications of the test on all sorts of unintended sotuations like insurance/mortgage etc so that plus the moral issues of explanning a positive outcome to family/extended family look tough.

Fresh

Edited by member 22 Jul 2018 at 00:09  | Reason: Not specified

Base jumping without a parachute should be frowned at, never criticised. Fresh

User
Posted 22 Jul 2018 at 07:15

In the UK health questions don't impact mortgage suitability unless they are linked to an insurance product.  I had to remortgage to pay off my X after I had my diagnosis and the bank didn't care as they said they would take back what I owed out of my estate if I croaked before paying it off!

User
Posted 22 Jul 2018 at 19:36
Thanks Fresh - what is most interesting is that they report only 1.2% and 0.44% of men have the BRCA gene faults, much lower than the 5% estimated up till now. No surprise really that the men with BRCA fault have a shorter survival time; it is the same for breast cancer, I think.
"Life can only be understood backwards; but it must be lived forwards." Soren Kierkegaard

User
Posted 22 Jul 2018 at 19:49
Frankij, I went through genetic counselling where the moratorium was explained to me. On one level you are correct; however, a) the moratorium only runs for 3 years at a time and could be reviewed if insurers were taking big losses on people who chose not to disclose their results b) there is no guarantee that our children will have the same protection c) it does not apply if you need life cover of £500,000 or more and since two of my children already own properties over that limit, they would obviously need the higher rates of cover. In the end, I agreed not to have the test - I didn’t feel okay about putting the kids in a position where they may have fewer choices in the future.
"Life can only be understood backwards; but it must be lived forwards." Soren Kierkegaard

User
Posted 22 Jul 2018 at 22:42

It's interesting that this recent paper from Johann de Bono's group shows that outcomes for men with germline BRCA (or other DNA repair gene) mutations (termed here DDR) are not significantly different from those without such mutations. However, in this study many of the men with the DDR mutations were treated with PARP inhibitors or platinum chemotherapy, from which they get a benefit.

https://www.europeanurology.com/article/S0302-2838(18)30019-8/fulltext

 

User
Posted 23 Jul 2018 at 00:48
Different baselines - for the gDDR study, they were only looking at men who already had metastatic PCa; for the other study they were looking at all men and found that BRCA made it more likely to get PCa , much less likely to achieve remission through radical treatment and more likely to develop advanced PCa and die.
"Life can only be understood backwards; but it must be lived forwards." Soren Kierkegaard

User
Posted 24 Jul 2018 at 18:24

I'm in the process of BRCA1/2 germline mutation mapping. My mother died at age 47 of ovarian cancer, and I'm in a research program to identify high-risk offspring for breast, ovarian prostate, and pancreatic cancer. 

Unrelated to the BRCA results (I won't get them for another few weeks), I'm booked for a biopsy mid-August due to high PSA levels and very low Free PSA levels (7%). 

 
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