Genetics clinic appointment what happens?

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1

Hi

This morning I received my appointment to go & see a doctor at the genetics clinic in July.

Bit of a surprise; I completed questionairre & GP sent this off a few weeks ago. As both parents have lots of siblings I didn’t expect to be called just told family no more at risk than anyone else.

Maternal grandmother had breast cancer; cousin had breast cancer & sadly died of it at 42; mother had begnin lump I had DCIS. Also bowel cancer with maternal grandfather & aunt (she died of it at 62).

My father had pre-cancerous polyps & 1 of his brothers (uncle) has recently been treated for a recurrance of prostrate cancer so it sounds at lot but my mum is 1 of 6 & my dad is 1 of 7.

What questions did anyone ask? My obvious 1 is should my younger sister be screened for breast cancer although she is almost at national screening age anyway. Should any of my nieces have early screening and how do I tell them if they are at a higher risk without scaring them silly. I have no children myself.

Just depressed myself typing this.

Oh & on top of that I inherited Type 2 diabetes from my dad & 1 of his other brothers also has it. Genes don’t you love them!

Any advise how to approach this appointment would be much appreciated.

Take care
Lynne

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hi Lynne,

i am 45 and have had cancer twice now, once in each breast, on my dads side there is quite a history,

i have 2 daughters so was very worried about the chance of braca1 and 2 gene being defective,

i was asked which family members had been diagnosed, when at what type of cancer it was,

i was asked to discuss my concerns, worries etc,

i was told there and then i could have a blood test the results didnt take very long to come back only 2 months or so, and were negative so i was very pleased to get some good news,

in my case my cousin had ovarian cancer, she was only in her early twenties, and 2 of my aunties had breast cancer, the other auntie had a hysterectomy i think maybe due to cancer, all on my dads side,

my mom was adopted so not sure about her side of the family,

i think this is why i was offered the genetic testing,

as you probably know already all the information you give is assessed and your views taken into account they will then be able to advise you from there,

all the very best, i hope this info helps a bit, Liz xx

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Hi Lynne

At our clinic if you were referred then you would get an appointment to discuss it even if you dont fit the criteria for early screening you would still meet with somebody in the department to assess your risk. You don’t say what age you were diagnosed. But if it was under 40 then your sisters and daughters would normally be eligible for early screening between 40-50 and sometimes earlier depending where you live. Because you mum has never had cancer this lowers your risk as in families with faulty genes normally everybody with a gene would be affected and usually at a young age (although there are some instances where this isn’t the case). But with 3 members of your family affected in 3 generations the genetic team may be willing to offer early screening to all first degree relatives of those affected.

It is less likely however that they would offer gene testing and even the brca3 research trial called the genetics of familial breast cancer will only test a person with invasive breast cancer although they require 3 cancers in the family. So if somebody affected by invasive breast cancer was able to give a blood sample they may be able to test it. My clinic don’t always take blood at the first appointment. They sometimes prefer to do that after you have had a chance to weigh up the pros and cons of testing or often because they need to get confirmations of the cancers from the cancer registry and hospital notes to confirm age of onset and type of cancer.

As for alerting your family to the possibility of increased screening they will be able to tell you at this appt who if any would be eligible for early screening. So I wouldn’t start panicing about that just now. And if they are eligible you would just be alerting them that could be offered enhanced screening. The risk won’t change. They will be at the same risk based on the family history regardless if whether they have screening or not. Usuallly they would need to be reffered through their own GP. So if the genetics peeps think the could have early screening you could say they MAY be able have early screening but to go to their GP and ask for a referral to genetics so it can be discussed.

I had breast cancer in both breasts at 37 and 40 and a family history of bc on mums side with mum and great gran nothing having it in 50s however after I was identified as a gene carrier they tested mum and didn’t have it I got it from my dad. There are always exceptions to every rule.

Take care
Lulu x

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Thanks for filling me in. I hadn’t realised if referred you always get to talk to someone; for some reason I was under the impression I would only need to complete the questionairre.

The Registrar who asked my GP to refer me did say I probably wouldn’t be asked to have a blood test; it makes more sense now.

Between now & then I’ll note any questions I can think of.

Regards
Lynne