Inherited cancer syndrome

[SmallGreatThings]

My Dsisters and I are currently undergoing predictive testing for hereditary non-polyposis colorectal cancer (HNPCC), which the internet tells me "is a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types. This means people with Lynch syndrome have a higher risk of certain types of cancer."

I have found out that my biological parent (whom we have been NC with for most of our lives) carries this altered gene and we now each have 50% chance of having inherited it.

I do not know how to cope with the uncertainty as we wait for our separate results. The combined chances are greater that one, two or all of us will be affected, rather than none.

Although, if needed, screening will be offered for the associated cancers - bowel, womb and ovarian, I don't know how to cope with the lifetime of uncertainty of waiting to find out almost constant results of invasive checks and the knowlegde that the risks are so high of developing cancer at a young age, whether in myself or either of my sisters, which will also affect my parents and half siblings.

I can't even begin to consider options for any of us having children without a 50% chance passing the defect on and inflicting this upon the next generation and my poor DH is obviously also struggling with this on top of the idea of the syndrome affecting me. Counsellors have mentioned PGD and IVF, or foetus testing with a view to aborting if unhealthy, and all I can think of is the emotional stress of this being unsuccessful.

I wonder if anyone who has been in this position has any advice for dealing with the overwhelming sense of helplessness?

@SmallGreatThings I have nf1, a genetic syndrome that comes with a lifetime risk of cancer at 60%, with a bad prognosis and low survival in case of cancer.

When I was diagnosed not so many years ago, I fell in the big black hole of helplessness. It is in the genes right?
However I started reading medical books, medical papers and conference transcript, not so much about NF1 as there is very little but about other tumour suppressor gene mutations.
The very important number in any of these syndrome is not the high number (60% or 80%) who get cancer but the low number of those who don't. Why don't they get cancer if they have the exact same mutation I have.
The epigenetics, what activates and silences genes play a role and lifestyle has a MASSIVE role.
I have since my diagnosis completely changed my lifestyle. I eat a specific anticancer diet, slightly calorie reduction and low protein (around 0.6 gr per kg I weight) following the works of Valter Longo and Luigi Fontana. I have completely banned sugar and any form of animal product. The protein I eat come from beans and legumes.

I had kids before my diagnosis and I got lucky. Do the preimplantation diagnosis.

For me, getting informed (on pubmed, not a blog or tv star cooking show chef) was what saved my sanity. Wait for the results and once you have them, if they are negative, open a bottle of champagne, if they are positive open a book.

I can guide you towards the newest research. You need to know that there is a 10 year gap between research and changes of protocol, so in our case, knowing what is best for us before it happens is fundamental.

I'm sorry you are going through this OP.

My DH is due to be tested soon (his DP's specific mutation is being identified and I expect we'll have the results soon so they can check him and siblings. The immunohistology report was highly suggestive of a MSH2 mutation)

We already have a DC and are thinking of another. We may try naturally or PGD. There is a reason though why PGD might be risky for us which makes it a harder decision. I know though that DH and his DP and DBs are all very glad they were born!

The thing I would mention is that his DP is in 70s and although has had several cancers, they are living a very full life with several children of their own and grand children.

It sounds as if there has been some promising work on a Lynch vaccine and regular screening will help to avoid bowel cancer which is the real biggie, (and a hysterectomy is an option once you've finished having children - I know that's a huge deal and I don't mean it lightly, but that takes away the other big one) then the other cancers are not such a high risk although I'm not downplaying it, just had a long time to rationalise it for DH and DC.

Look up the CapP3 aspirin trial - aspirin has been surprisingly effective in reducing risk, as always speak to your dr about it before taking it but it's well worth researching.

I'm sorry, I know how hard it is, (although for me the worry is for DH and DC rather than myself) but the longer I've had to research it the more prepared I feel and it will be ok.

I hope it is negative for you and your siblings, and my DH too but please feel free to PM me if you think it would be helpful!

@LiliesandChocolate - I'd be interested in latest research you are aware of.

I'm already mindful of diet - reducing meat and especially red and processed meat, avoiding sugar , swapping out potatoes for sweet potatoes etc, vegetables, tumeric, broccoli, that kind of thing. We avoid plastics for food prep, and radiation (although in my DC's case unfortunately some radiation is unavoidable due to another medical condition, we just do our best to be judicious)

DH has always eaten loads of red and processed meat and I know it's his life and he wants to enjoy it, but I find it tough!

He doesn't know a lot about Lynch because he doesn't want to which I understand, but I do and wish I could encourage a more healthy lifestyle.

These page provides a series of studies linked directly to LS www.voedingenkankerstudies.nl/en/Nutrition-and-cancer-studies/GeoLynch-study/Results.htm

www.cell.com/cell-metabolism/fulltext/S1550-4131(18)30120-7?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1550413118301207%3Fshowall%3Dtrue#secsectitle0035

www.ncbi.nlm.nih.gov/pmc/articles/PMC6337022/

valterlongo.com/cancer/

Also a good starting point is to look for epigenetics talks on TED

Hi Small, DH has the HNPCC gene mutation, as do his siblings.

It must have come as a shock that it's a possibility especially having been NC with the parent with the gene.

Are you being offered any counselling as I'm talking therapy, I'm not sure if the counsellors you're referring to are genetic counsellors. What is the timescale for receiving the results?

I hope that you and your siblings do not have the gene.

If it turns out that any of you do then find out what screening you are being offered and ensure that you do attend. Screening gives the best chance to catch any cancer as early as possible.
It would also be worth getting baseline blood tests done so you know what are normal levels for you.
If you feel unwell in the future then a comparison can be made.

Rather than relying on Google, ask what the most common symptoms are and what you need to do in future of you feel unwell outside of screening schedule. You don't want to be scared of every niggle, but it will help to be in tune with what your normal is.

DH has had bowel cancer but is currently doing well. This is bowel cancer awareness month, perhaps visit bowel cancer UK website for more information.

Happy to try to answer any questions.

Thanks for your kind messages of support.

I'm sorry to hear of your experiences, but appreciate your insight; this is something I wasn't really aware of and has come as a shock. In some ways, there's the additional emotion as this news came out of the blue in the context of no relationship with our biological parent other than genetic, but in another, this hasn't emerged as a result of known serious illness in the immediate family, as the contact only came after this, once dealt with and I therfore haven't had to experience the effects on various generations.

The genetic counsellor (sorry, I didn't clarify before) has explained the basics and I've tried to arm myself with as much information as possible to understand the implications. I agree with understanding what steps to take and being prepared for the possibilities.

I think the uncertainty is the biggest issue at the moment, and the idea of more uncertainty of constant checking and waiting for results in terms of screening, although I know it could be much worse than just that.

Thanks for the information about the vaccine being developed, aspirin and diet. I'll definitely look into these further and I'll know the right questions to ask, which makes me feel a bit more positive.

Hi op. My story is sort of the reverse of yours. I had bowel cancer last year and am now being tested for Lynch. I've been told it's very likely I have it and if I do, I'll be having a hysterectomy. I've been advised to take 75mg of aspirin a day (as per the trial mentioned above).
I also have a 5 year old dd and the fear of having given it to her is quite overwhelming. But she won't be tested until she's 18 so I need to try and not think about it.
The uncertainty and fear are completely overwhelming if I'm honest but the truth is that if you do have the gene and haven't had cancer, you'll be lucky to be diagnosed now so as you can be closely monitored. Knowledge is power and it means you'll be safer than if you didn't know.
Good luck.

This was on Bowel Cancer UK website: www.bowelcanceruk.org.uk/news-and-blogs/research-blog/creating-a-national-lynch-syndrome-registry/

Hope you don't have to wait too long for results OP but ask the team to have some support lined up for you or what us available.

Hope you also have support in place Dulce.