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Genetic testing

9 replies

Nikki360 · 15/11/2020 23:28

Hello looking for some advice. First thing is I suffer from ocd and horrendous health anxiety. My mum has had breast cancer twice once at 52 and then again 68. She now 77. I was 19 when she first had it. I've never dealt with it very well. I've always worried as it can be hereditary. My mums half aunt had it. She lived till she was 88 and it wasn't cancer that she died off. That was my family history. However last year I found out her daughter was diagnosed with it. My mums half cousin. She was 59. She's fine now. We are not close with them so I found out via Facebook. They have now gone to genetics. They have said my great gran had it. My mum says she knows nothing like that and she was never told that. She died in 1944. This year mums full cousin was diagnosed age 71. Her mother no blood relation to us had it and died from it years and years ago. She had a lump and never went to the doctor. My doctor has the breast clinic said she didn't think much higher risk but she would refer me. I got a call on Thursday and to be honest I'm so confused as to what to do. They said they would test my mum first. However I've read you can get inconclusive results which I think I would worry about more. Has anyone gone down that road with genetics? I spoke to McMillan and they says these relatives apart from my mum are distant. I'm just a bit all over the place. Please be gentle I do have really bad health anxiety

OP posts:
Nikki360 · 16/11/2020 18:16

Anyone?

OP posts:
keepingmindful · 16/11/2020 18:21

I had it at 40. My granny got it in her 50s and died. I got genetic tested and do not have the gene. Have cousins, a sister and a mum who never had it. As 1 in 3 women get it, it was just a bad coincidence. Although they are researching it all of the time, there may be genes that haven’t even been discovered yet. That’s why I donate to Cancer Research so my daughters don’t have to go through what I went through. Trust your doctor or pay private x

JaJaDingDong · 16/11/2020 18:23

The best thing you can do for yourself is to check your breasts regularly, without fail.

The NHS says this;
It's estimated that between 3 and 10 in every 100 cancers are associated with an inherited faulty gene. Cancers caused by inherited faulty genes are much less common than those caused by other factors, such as ageing, smoking, being overweight and not exercising regularly, or not eating a healthy, balanced diet.

TJF2020 · 16/11/2020 18:27

@Nikki360

Hello looking for some advice. First thing is I suffer from ocd and horrendous health anxiety. My mum has had breast cancer twice once at 52 and then again 68. She now 77. I was 19 when she first had it. I've never dealt with it very well. I've always worried as it can be hereditary. My mums half aunt had it. She lived till she was 88 and it wasn't cancer that she died off. That was my family history. However last year I found out her daughter was diagnosed with it. My mums half cousin. She was 59. She's fine now. We are not close with them so I found out via Facebook. They have now gone to genetics. They have said my great gran had it. My mum says she knows nothing like that and she was never told that. She died in 1944. This year mums full cousin was diagnosed age 71. Her mother no blood relation to us had it and died from it years and years ago. She had a lump and never went to the doctor. My doctor has the breast clinic said she didn't think much higher risk but she would refer me. I got a call on Thursday and to be honest I'm so confused as to what to do. They said they would test my mum first. However I've read you can get inconclusive results which I think I would worry about more. Has anyone gone down that road with genetics? I spoke to McMillan and they says these relatives apart from my mum are distant. I'm just a bit all over the place. Please be gentle I do have really bad health anxiety
Could speak to your gp about being referred to genetics and being tested for TP53, my little sister has cancer, my nan died from cancer young and her dad did. So my sister was tested to see if her TP53 gene was mutated as it can cause early onset breast, brain and cervical cancer. Luckily hers has come back clear, but if it hadn't we would of all been tested to see if we carry the gene then would be offered MRI every few months to check.
Nikki360 · 17/11/2020 17:24

Thank you very much for replying. I think I need to ask what genes they are testing for and then decide. It's very confusing and upsetting.

OP posts:
TJF2020 · 17/11/2020 18:16

@Nikki360

Thank you very much for replying. I think I need to ask what genes they are testing for and then decide. It's very confusing and upsetting.

Yes I would ask, I believe they can also offer genetic counselling which I believe if you was unsure about anything they could explain to you all of it. And yes I totally understand it's such a confusing and upsetting road. Just a heads up it's not a quick process my sister was tested back in July, and we only got the results back a couple of weeks ago.

kmojojana · 17/11/2020 18:16

Ask to be referred to your local genetics or family history clinic. Don't panic! They can assess your family history and if needed you will be offered extra screening.

Nikki360 · 17/11/2020 19:19

Thankyou I was referred to the genetic clinic and I had the telephone consultation last week. I just got very upset as she asked would I consider a mastectomy if anything came back. She said my mum would be tested first them if anything they would test me. The problem is you can get three answers negative positive and unknown. This is really getting me down.

OP posts:
Badgerstmary · 27/12/2020 00:30

Hi, I found out this year that my mum had the ATM mutation. This unfortunately increases the risk of several cancers & there is not as much known about it compared to BRCA1/2. My sister & I have also tested positive for this gene & we are now waiting for our dc to be tested. Good luck op.

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