Genetic Testing

I would just ask, hugs

My cancer is triple negative and at 59 i was offered genetic testing (cut off 60 apparently). I’m glad I had it as I was diagnosed with the PALB2 gene mutation. It was upsetting but knowledge is power and it gave me and my family protective options.

I have a friend who foe some unknown reason in another part of the country was not offered it and she paid privately to have it done - she just felt she wanted to know.

Jan

When I had it done 8 years ago, it was at the Marsden. Then it was a points system, it's not just breast  it includes a group of cancers. I qualified for testing as my Grandmother died of pancreatic cancer and my mother had 2 breast cancers, one in each breat and cancer in the uterus.  Died at 94 had been cancer free for 16 years, died of heart attack. I was negative. What I understand, from the details you give with family history, is how they score you for testing.

I was referred at 62 and tested at 63. My aunt,  sister and great aunt had breast cancer,  and my uncle had prostate cancer.  I've two daughters,  and was glad to find out I don't have the common ones at least,  and my daughters can be treated routinely from 40 if they want. 

Hi Jolly Clasher , I can only speak from my own experience… I’ve had genetic testing this year but had to ask to be referred. I asked at my 4th annual follow up appointment last august with the breast surgeon; he agreed to request a referral from the genetics team, I was sent a very long questionnaire to return direct to genetics, saw a genetics counsellor 4 months later who agreed to send me for the blood test there and then. Got the results by phone 12 weeks later. Turns out I don’t have the high risk genes but do have one that has only recently been identified as carrying a moderate risk of breast cancer (pathogenic ATM mutation). Apparently it likely explains why I got breast cancer. Which btw was hormone positive, as was my mum’s, who died at 53 from it. They think she was probably the carrier; can’t investigate that as both my parents are long dead (my dad died from prostate cancer). 
I had asked about possible genetic links when I was initially diagnosed, and was told it was unlikely as my cancer was hormone positive. That was nearly 5 years ago when they were mainly focusing on BRCA which is more likely to cause triple negative, I believe. 
So definitely ask! Genetics knowledge is changing all the time, and in a way I’m glad I didn’t get tested straight away as the centre I went to didn’t test for my gene back then. So I’d have been negative for the others and totally unaware that I had the ATM one. It doesn’t change too much for me but it opens the way for my siblings and children to get tested. If any of them have it, they wouldn’t be offered surgery but earlier screening. 

I definitely feel that knowledge is power, for me. It does put me at higher risk of recurrence and a second primary cancer but not by a huge amount. At a later phone consultation the genetics doctor fed back from an MDT meeting where they discussed my case, and put my details including other information about me into a Cambridge calculating tool, and the results were actually quite reassuring. I was also told that I have the less risky form of the gene variant which was comforting. I will say though that it was a still a shock and upsetting to get the initial news, however prepared I thought I was. It did feel like a further ‘kick in the teeth’! But I’d still rather know. 
Sorry for the long ramble (I do have that tendency!), really just to say do ask! 
Good luck at your appointment and with any further treatments, love and hugs, HFxx 

Thank you HappyFeet1  

Not a ramble at all but very informative and thorough which is just how I like it! Sorry you and your family have been through such a horrible cancer journey but glad you got answers to your questions too. Knowledge is most definitely power for me aswell xx

Thank you!

Thank you x

Hi Happy Feet,

Very Interesting, my testing  was a few years ago and yes it was BRCA. I don't have children, if I did I would have most likely in todays testing, re test. I have a new primary tumour in the same breast I had a tumour in 31 years ago. My father also died of cancer in the lung, 3 months after diagnoses, non smoker, so between the 3 of us, cancer has reared it's head 6 times. 

Wishing you a positive journey x

I asked at my biopsy results appointment (my link was my Mum and her Sister).  Me and Mum are both E+, not sure about Aunty.

There was a lot of consultation with the genetics counsellor after which I was sent a form.

All I had to do was get a blood test and take the form with me to the blood room.  

There were no mutations found in my case, and it gave me some reassurance to pass to my Sister.