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Am I elligible for genetic testing?

DebsR
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Hi, I’m new here but am hoping to get some advice and support re genetic testing.

I haven’t yet been to see my GP to discuss this, and am unlikely to for another 3 months due to Corona Virus, so I thought I would do a little research first so that I am well-armed when I do get an appointment.

I come from a family of six: mum, dad, two sisters, a brother and me. Out of the six of us, five have or have had cancer:

Dad - had bowel cancer in early 40s. Been in remission since and is now in early 70s. 

Mum - has leiomyosacrcoma. Diagnosed 5 years ago so has done so well to get to this point, but can no longer have any operations to remove tumours and no other treatments have worked so it’s palliative care from now on. 

Sister 1 - acute leukaemia in her 20s. Luckily been in remission since chemo and is now 50. 

Brother - melanoma. Had facial mole removed in his 30s and has had no reaccurance since (now 41).

Sister 2 - aged 49, just been diagnosed with malignant pyllodes breast cancer. Waiting for further scan to check there aren’t any tumours anywhere else.

Then there’s me, aged 43 and I am worried that I am also at high risk of cancer. I have PCOS and endometriosis, which puts me at slightly higher risk of some cancers, so I am considering also asking GP to refer me for another ovarian scan, just to check that the cysts are still behaving themselves. But is that enough? 

I also have three children of my own and my concern is that they may also have a higher risk. 

I haven’t fully researched other members of the family yet, ie aunts, uncles and grandparents but I don’t think there is anything of significance, however, one of my grandparents apparently developed leukaemia before he died (in his 80s), but my nan denied it so that’s all a bit weird. 

So as you can see, there is a mixed bag here, but after doing a bit of research on pyllodes tumours, I came across LFS (www.lfsassociation.org/.../) and other gene mutations and wondered if there is something within my family that has caused so many cancers.

Any help or advice would be greatly appreciated.

If I’ve posted this in the wrong place then please point me in the right direction!

Thanks,

Deb

 

  • Offline

    Hi Deb,

     

    I saw your post and wanted to reach out. 
     

    I cannot give you much advise on this as, LFS is new to me also (I have been diagnosed with LFS Dec 2019). 
     

    From my experience, there has been no family history of cancer in my family. Apart from my great grandad who had leukemia - the doctors dismissed this as a possible link to my genetic mutation. 

    I was diagnosed with inflammatory breast cancer on 4th September 2019, I am 29 years old  

    the reason I was genetically tested was because of my age and that there is no cancer history from my parents and siblings. I am 29, my mother and father coming up to 70 and my sisters are in their 40s. 
     

    I think the doctors were expecting my test to come back with the BRCA result.. but of course it came back that I have the TP53 mutation or LFS as it is more commonly known as. 
     

    so now my sisters are being tested.. but as they have not had cancer .. the doctors believe I am de-nova / the first one to have the mutation in my family. 
     

    It may be wise to request a test due to your family's history, from what I know however - (I think) the first sign of the mutation is certain cancers before the age of 30 - I just hit that timeline. 
     

    Fortuantley (but unfortunately for patients with the mutation) LFS is quite rare.. so there is not much information on this. I am currently trying to investigate whether to proceed with radiotherapy and I am not having much luck finding other experiences on this due to the lack of diagnosed patients. 
     

    I can only provide this link which may be able to give you some more information, the founders of this trust made it as their son had LFS and wanted to provide information to other individuals .. I hope it can help you: http://tp53.co.uk/ 

     

    please let me know how you get on and if I can be of any help at all - please do reach out to me :). 
     

    much love

    Jodie

  • Offline in reply to JodieStarBright29

    Hi Jodie,

    Thank you so much for your reply.

    I am sorry to read about your diagnosis. How are you doing re treatment?

    I had a look at the TP53 link and I think you’re right about LFS being more likely for those that have cancers in childhood, but I think it also includes certain ‘rare’ sarcomas at any age (like the ones my mum and sister have) and also acute leukaemia, which my eldest sister had in her 20s.

    As you said, there isn’t a lot of research on LFS, but where cancer is concerned, nothing surprises me!

    I’ll let you know how I get on with the GP once I’m able to get an appointment. 

    Thanks again for your reply.

    Wishing you all the best,

    Deb

     

  • Offline in reply to DebsR

    Hi Deb :happy:

    im okay in regards to treatement - I finished chemo on the 20th February and had my masectomy on 2nd April - I have to wait until the covid situation goes down until I can have risk reduction surgery to the other breast. 
     

    it was a bit of a shock - going to the doctor for a lump - finding out I had cancer - finding out I have a rare mutation! Haha but I have taken it all well .. I've been lucky with hardly any side effects to the treatement, which I think has helped me a lot mentally. 
     

    yes please do go and enquire about genetic testing. If you doctor says no then ask another - they have no reason to turn you down. 
     

    Have a lovely weekend. 
    Jodie x 

  • Offline in reply to JodieStarBright29

    Glad to hear you are managing well under such stressful circumstances. State of mind definitely helps - I know this from seeing how the rest of my family have coped with cancer; they have all been so strong and it’s a miracle that they are here to tell the tale.

    Peole like you are an inspiration for those that don’t cope as well for whatever reason, so the fact that your are here and reaching out means a lot as others will benefit from your strength. 

    Stay positive.

    Deb x

     

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