BRCA testing

[Vi37]

Hi, just needing opinions on what to do really. My mother in law has terminal cancer at 71 she has been found to have the BRCA 2 gene. My partners brother, sister and other sister have all tested negative for it. My partner doesn’t want to have the test I don’t think he wants to know and I think it affects life insurance etc. The trouble is we have a 9 month old son and I’m scared to death that if my partner has it it could be passed to him. Even if my partner tested positive though,it’s a 50/50 chance our son could have it too but he wouldn’t be able to be tested until he was 18, so that’s 18 years of waiting to see. I don’t know what to do at all. 😥

I would encourage your DP to be tested. My SIL recently had breast cancer and was found to be carrying the BRCA2 gene so my DH and his other sister got tested and luckily both results came back negative. My DH wanted to know because although the cancer risks were much lower for a man carrying the gene (I think 25% chance rather than something like 90% for women), the type of prostate cancer linked to BRCA2 is a very aggressive one and if he had had the gene then he would have had more check ups just to be ultra cautious.

We don't have children together but if we had then I would have been very insistent that he got tested. If you are found to be carrying the gene then there is a 50% chance you will have passed it on to your child. Your DP may not be carrying the gene and therefore your son won't need to be tested in the future but if your DP doesn't get tested then there will remain that uncertainty for son and if he is carrying the gene then he could pass it on to his own children and so on. If your DP tests negative for the gene then you can all relax.

I was diagnosed with breast cancer 5 years ago and then found that I had the BRCA2 gene. My sister and dad also have it and my brother hasn't been tested. I also have three children. It's a very difficult choice. Has your DH had genetic counselling?

Why are you saying your son can't be tested before he is 18?
I have a genetic mutation similar to the BRCA mutation called NF1.

The NF1 gene - and the BRCA gene - both prevent tumour growth. When there is a mutation, this doesn't work as well. So we are more prone to tumours and cancer.

Anyone can be tested at any time if there is a strong suspicion of gene mutation.

However you need to understand that a positive result will affect your son's life in more way than you think and your DH has a point here.
When considering if doing the genetic testing for my sons, my geneticist advised AGAINST as it would affect their ability to have or restrict :

• life insurance
• health insurance
• mortgage

- immigration to certain countries

• jobs (forces, police, pilot, astronaut, ......)
• even enrolling in certain universities

So this decision is not easy to take, but you must ask yourself, what would you do if your son had the mutation? You can't remove the prostate, so what is possible?
Educate yourself on genetics and epigenetics and understand how gene activation work and how to prevent the tumours. Adopt an antic-cancer lifestyle for your family. Your son is 9 month, perfect time to wean him with healthy food, and not develop a taste for processed food
There is a vast literature on using lifestyle to prevent cancer in BRCA1 and BRCA2. The main project is called LIBRE www.ncbi.nlm.nih.gov/pubmed/27473440

Don't focus on the fact that a high % those carrying the BRCA2 mutation get cancer, focus on the opposite, on why some do NOT get cancer and being able to do something about - a possible mutation - will help you being serene.

There is currently a moratorium set by the government regarding BRCA and insurance.

www.abi.org.uk/globalassets/sitecore/files/documents/publications/public/2014/genetics/concordat-and-moratorium-on-genetics-and-insurance.pdf

No guarantee that it will extend past next year though, so worth getting life insurance in order before testing (insurers can’t ask about other family members results).

I had BRCA2 testing earlier this year (didn’t inherit it) and did several sessions of counselling before the blood tests. Could’ve backed out at any time.

The good news for you guys is while BRCA2 does affect men and boys, it’s only a very small raised risk, nothing at all like the risk for women and girls. No need for any preventative surgeries, but extra screening is available. Your DP can ask to be added to the extra screening without being tested, he just needs to talk to his GP to set it up.

The reason they don’t test for BRCA1/2 until 18 plus is because the disease won’t actually affect until adulthood, so best practice is to wait until they can legally consent to the process, having been fully informed. Risk prevention surgeries won’t be performed on minor girls under any circumstances (and science is moving on all the time, by the time girls of today are 30plus, they will have loads more options available).

(Some other genetic tests are done on children, but it’s because the illnesses they could be predisposed towards having are ones that affect children)

I lost my Dad to Prostate Cancer this year and his support group said that myself and my sister are at higher risk of hormone related cancers. Should I be thinking of having this test?

Your partner really needs to get tested. I went through it and as mentioned there is counselling beforehand, it's very helpful to know whether you are able to continue with the testing or you'd rather not find out. I was already over 30 when I found out mother had it so I didn't hesitate, but I do have some relatives who have chosen not to test. I worry slightly for them.

As mentioned the cancers caused by BRCA are mostly manifest in women - breast and ovarian - and don't tend to occur until 30s onwards. So I hope you do not worry for your son, if he waits until 18 the chances of him falling ill due to the gene before that are infinitesimally small.

Confused by the advice given by King:
-insurance cannot ask about Brca genetic tests (though you'd possibly get a raised premium anyway due to family history)

-children need to be 18 to consent to the test. I was advised you can't even test in utero unless you would terminate.

-university admissions, what!??

Its your husbands choice of course, personally I felt shit about it all until I got a positive result and all the 'what ifs' were removed as I could make a plan and go forward. I'd recommend he begin looking into it and get genetic counselling, it doesn't mean he has to have the test. Good luck

Hi Bexcee. I’m sorry for your loss. Losing a parent is a profound experience:/

I’m not sure about your circumstances (my mum had ovarian cancer and my nan breast cancer so we ticked obvious boxes) but your GP is your starting point for referral for genetic testing, so make an appointment and find out? If your circumstances do indicate referral then you will have counselling sessions before any tests are done and will have plenty of opportunity to decide if you want to go ahead or not.

It used to be that you could only be BRCA tested if you had a living relative with the disease (to be tested as a baseline) but my mum actually died 14 years ago and I was only tested this summer!

New techniques have been invented that allow for tests to be performed on very small, stored tissue samples (my mother’s sample was 17 years old!) however, I’m not sure how widespread this is yet, as the process was actually invented at my nearest big hospital, so it might take some time to be rolled out nationwide.

(Forever grateful for our NHS)

Thank you Betty I'll take your advice

I think that this is your DP’s decision. If he has had the counselling and decided against it, you must respect that decision.

King - I'm not sure if you're in the UK. Nowhere on a UCAS form would you have to indicate that you were BRCA positive. I haven't had any issues visiting other countries either.

And I meant to say, my oldest also has NF1 so I know a bit about the effects of that on travel insurance and we've really never had an increased premium because of it.

NHS genetic counsellors will go over all of the up-to-date legal implications relevant in the U.K. before you agree to the test.

I had already arranged life insurance prior to testing but my counsellor did ask about it and had I not already had it and wanted it, there would’ve been time to get it sorted after starting the counselling but before having the test.

This is all built into the counselling process, so I would definitely recommend everyone entitled to testing attend the initial appointments and make the decision to test or not to test based on up-to-date, professionally vetted information.

The counsellor will look at your other risk factors (age, weight, lifestyle) as well as the genes, it’s a tailored, individual process.

All these restrictions were highlighted to me by the head of genetics in Sydney. There is apparently an obligation of disclosure.

King - as mumsnet is a UK based site it might be worth mentioning your location when you respond. Most of your points don't apply here and could scare people into not getting testing due to irrelevant info. The healthiest diet in the world can't overcome all genetics. I dont mean to be snarky but I know first hand how sensitive all of this genetic testing is.

No sure I agree with you last point. It is now more than 20 years, that genetics is approached in a different way. Environment has an influence on your genes. If your do a bit of research, watch some TED talks or do a couple of epigenetics course, you will understand that gene activation is influenced by many factors.

It is important to understand that the BRCA or the NF1 gene are the good guys. You don't grow tumours because you have them, you do before a mutation makes them malfunctioning.
It is hugely long and complex to explain, but there are things you can do to either boost the functioning copy of your gene or activate one of the other tumour suppressor gene we have (65 in total).
In the case of BRCA1 or BRCA2 or NF1, the key factor is NOT everyone has the cancer or tumours, even within the same mutation, so how is this possible. The answer is epigenetics.
It is not about overcoming genetics. Genetics is the gun, but environment is the trigger. You can act on the trigger. You can act of gene activation. To give you an example, take a cell from your eye and a cell from your pancreas. Both have the exact same DNA, yet you don't produce insulin in your eyes because the insulin producing cell is silenced. Genes cannot be changed but the is room to turn them on and off. BRCA and Nf1 are very close to each other on the 17th chromosome. There are ways to act on the cellular pathways. A 10 min teach on Pubmed would show you hundreds of hits.

I think it's his decision and if your son wants to be tested at 18 then that's his decision as well.

Ok, my ten year old son has NF1. He's lucky in that physically he's ok bar a couple of big fibromas and some renal issues. However, like 1:5 other people with NF1, he has a couple of co-morbid issues. Can you link me to which studies have demonstrated that we can somehow turn on other protective factors?

weebarra

www.ncbi.nlm.nih.gov/pmc/articles/PMC5537897/

You need to understand what the NF1 gene does. It down regulates the RAS pathway which is a very complex and busy pathway for cellular development. MEK and mTOr are two main players in that pathway and the only drugs being tested and somehow working are MEK inhibitors, usually given to lung cancer patients. However, many things can affect the RAS pathway and this is where diet plays a role.

NF1 gene (and BRCA gene) are needed when a DNA damage occurs. The way you can prevent tumours is first to limit the DNA damage that is linked to environment (from formaldehyde in cosmetics to bacon) and to try to induce mutated cell apoptosis by targeting them with protective molecules. We mostly have one functioning copy of the NF1 gene.
I follow an anti-cancer diet to reduce the incidence of tumours.

All you can do is ask your DP to go for the initial hospital appt where they will discuss the pros and cons of being tested.

The clinic I went to said only around 50% of people come back after the first appt.

Some more reading for those interested
www.ncbi.nlm.nih.gov/pmc/articles/PMC3521784/
www.ncbi.nlm.nih.gov/pmc/articles/PMC3618255/
www.ncbi.nlm.nih.gov/pmc/articles/PMC3889536/
www.ncbi.nlm.nih.gov/pmc/articles/PMC4359966/

There is plenty of room for intervention and lifestyle changes

@BettyDuMonde I have been reading a few of these threads with interest but had to comment on this one as your story is strikingly similar to mine! My mum also died 14 years ago, and I have just had testing done on an 18 year old surgical sample from her! I live in the south but the testing was done in Manchester. Turns out she did have a BRCA2 fault. I'm about to enter the testing process myself. Also totally in awe of the NHS and the options available to us these days!