Just found out my dad is carrying both the BRCA2 and Lynch mutation

[anonymous98]

Hi Mumsnet.

A little stunned here.

I am an admitted huge hypochondriac.

My father emailed me with several documents which appear to state that he has received genetic screening for Li-Fraumeni Syndrome, BRCA 1&2, and Lynch Syndrome. He has tested positive for BRCA 2 and Lynch mutations- and negative for Li-Fraumeni (thank God).

My father also has cancer - stage 4 prostate.

The documents were in his native language, so I've spent a fun hour translating, just to add to the stress.

Can someone advise what I should do in terms of next steps? I gather that I am at 50% risk of inheriting one or both of these syndromes. To make matters worse, we also have a suspected BRCA mutation on my mother's side, too. Nearly everyone in my family seems to get cancer, especially breast cancer.

I'm panicking a little bit. I'm only 26 but younger people are developing cancer now, aren't they?

You are high risk but much can be done to reduce this risk. I would seek genetic testing and genetic counselling. Cancer treatment is getting better but best is to take action to reduce risk factors asap.

I’ve never heard of lynch mutation but it’s good to be pre warned about BRCA gene. Not a great thing to be hanging over you but you will probably be very meticulous at checking. I didn’t know men could have that.

Will my GP be able to refer me for genetic screening etc.?

I was referred for this screening by my parents consultant, but if they are not in the country I’d take the documents you have to your GP.

My screening appointment was scheduled quickly and the genetic counselling teams were very helpful. Luckily I do not have the variant but I did find waiting for the results tough.

The preventative and early detection measures can make lynch much more manageable and I now have a family member with it in their 70’s.

Hopefully, yes. It's worth taking a copy of your dad's genetics results to the gp

They're not in English - will they accept them?

Thank you :)

Unfortunately we have men with breast cancer on my dad's side. Lucky us!

Could you get them translated?

Just c&p the document into Google translate and print it off to take to your GP, sling with the original. If the doc wants a bit official translation he can get it, but it's a start.

Even without the documents if there are lots of cases of breast/ovarian/prostate cancer in your family then they would probably refer you to the clinic so they can see if you need to be on the high risk register for regular screening.

https://www.nice.org.uk/guidance/cg164/chapter/Recommendations

People without a personal history of breast cancer who meet the following criteria should be offered referral to secondary care:

• 1 first-degree female relative diagnosed with breast cancer at younger than age 40 years or
• 1 first-degree male relative diagnosed with breast cancer at any age or
• 1 first-degree relative with bilateral breast cancer where the first primary was diagnosed at younger than age 50 years or
• 2 first-degree relatives, or 1 first-degree and 1 second-degree relative, diagnosed with breast cancer at any age or
• 1 first-degree or second-degree relative diagnosed with breast cancer at any age and 1 first-degree or second-degree relative diagnosed with ovarian cancer at any age (1 of these should be a first-degree relative) or
• 3 first-degree or second-degree relatives diagnosed with breast cancer at any age. [2004]

I'm anxious, so not really thinking well. But off the top of my head:

My paternal aunt has breast cancer
My paternal great-grandfather had breast cancer
My dad has prostate cancer

My maternal grandmother had breast cancer
My maternal great-grandmother had breast cancer
(Both were pre-menopausal)
Several cousins have had breast cancer
Various other cancers

I’m sorry, I didn’t mean to make you anxious - if you go to the GP they can refer onwards so you have extra screening if warranted by the family history.

I used to work in endoscopy and patients with Lynch syndrome or a family history were offered regular colonoscopies (usually every 3 years unless there were any causes for concern). There’s an increased risk of growing polyps (which are fine if caught early but have potential to turn if not spotted).
I definitely agree you should speak to your GP about genetic counselling for both issues so they can look at the best options for you screening wise.

Yes, the GP can refer to genetics who will take the necessary blood tests and refer you for appropriate screening and risk reducing options

I have Lynch Syndrome and had bowel cancer last year. I’m not in the UK but go to your GP and take your father’s results. The fact that he has tested positive should be enough for further testing. You have a 50% chance of inheriting the mutation but knowledge is power and cancers caught early are far easier to treat. Lynch Syndrome is also associated with other cancers particularly endometrial so a hysterectomy is recommended after your family is completed. I’ve had a lot of surgery in the past 18 months but now I am fully recovered and looking to the future.

One of my family members had bowel cancer in their early 30s and in our family screening via colonoscopy is recommended from 25. Elsewhere they might say 30 depending on your risk factors. There is evidence that taking aspirin daily can reduce your risk of bowel cancer with Lynch Syndrome but seek medical advice on that first.

My friend’s family is at higher risk for breast cancer and she was offered regular MRIs to screen as they are more accurate than mammogram in pre menopausal women due to breast density. Again this is not in the UK but worth asking about.

All the best, happy for you to DM with any questions.

Sorry to hear about the bowel cancer. Hope you are feeling better now 💕

Update: Have emailed across documents to my GP. Will phone up if I don't hear back. My GP surgery is generally very good, so hopefully they will be able to refer me for screening asap.

I have, of course, been Googling and feel very intimidated at the prospect of possibly needing a preventative double mastectomy/ovaries removed somewhere down the line.

My mother is really upset about this and I feel awful for making her worry.

If I test positive for BRCA etc., I'll deal with it. Scary, though.

I am going through this process now, after finding out after a close family member passed away with breast cancer that she was BRCA positive.

GP needs to refer you - usually it's to breast surgery unit at hospital. My GP did this in a telephone appointment, I just had to give an outline of the reasons for referral on the phone and he was like "well that sounds sensible, I'll find out how to make the referral."

The first appointment at the hospital will be a family history appointment there where they will take your family tree and details of what you know in terms of who has tested positive and the cancer history within your extended family, and make a recommendation as to whether you progress forward with testing. For me, getting this has taken months - it keeps getting cancelled. It hasn't been a quick process unfortunately.

Sorry to hear this. I do hope it can get sorted for you soon.