Genetic Testing - Cancer

[BlueBlood6]

Hi all,

I hope this is okay to post here—I’m looking for advice from anyone who’s been through genetic testing because of family history. Bit long - sorry !

On my mum’s side, my family has a lot of cancer cases, and I’m starting to worry about what it might mean for me. Here’s the background:

• My great-grandmother had liver cancer.
• My grandmother had either cervical or ovarian cancer—she was diagnosed in her late 70s or early 80s, but she couldn’t have treatment because of her age.
• My aunt (my grandmother’s youngest daughter) died of ovarian cancer at just 46.
• Another aunt(middle daughter) had some sort of gastrointestinal cancer. We’re not in contact, so I don’t know all the details, but she’s alive and seems fine after treatment.
• My mum(oldest daughter) had gastrointestinal cancer, diagnosed late at 69. Her symptoms had been ignored for a long time, and by the time she was diagnosed, it was too late to identify the primary cancer or offer treatment.

Then there’s me. I’m 33, and while I don’t have any worrying symptoms right now, I do have confirmed endometriosis and a cyst (which was labeled “simple” during scans last year). Knowing the family history, especially with two cases of ovarian cancer (one at a young age), I can’t help but feel I might be at higher risk?

I’ve only recently been made aware of genetic testing on the NHS. I’ve never been offered any advice or testing, even though I mentioned my family history to my GP ages ago. I’m nervous about bringing it up again in case I get brushed off—especially because I’m still relatively young and screening is often aimed at older people.

So, I’m turning to this group for advice:

• If you’ve had genetic testing, how did you bring it up with your GP?
• Did you get referred easily, or did you have to push for it?
• Does anyone know if self-referral is an option for genetics services? I can't find definite answer online.
• And if you went private, what was the process like, and would you recommend it?

I’m ready to explore private testing if needed, but I want to make sure I’ve looked into everything available through the NHS first. I know genetic testing doesn’t mean I will definitely have the cancer on the future , but I’d like to know what I’m up against so I can take steps early if needed.

Any advice or experiences would mean a lot—thank you so much in advance! :)

Hello, we're in the same boat! Also 32, also with extensive family history of cancer, also been wondering recently about potential screening/testing I could be eligible for. A bit of extra context in my case was that my mum's sister had breast cancer in her 30s, which led to my mum being put on an annual early mammogram service. (My mum did develop breast cancer in the end but not til her 50s and it was caught very early). I wondered if something similar still existed and whether I could access it.

So in my case, I spoke to my GP first and asked what next steps were available. She referred me to the Family History Team at a London hospital. They sent me a lengthy form to complete about my family's history with cancer, and I have an initial phone appointment with them in a few weeks. As I understand it, after that appointment they will decide whether I am eligible for further steps, which could include genetic testing (for the BRCA gene) - I am hoping another option might be annual advance scans. But I don't know yet, so I'll report back!

@swayingstreetlamp thanks for your comment!

Very sorry to hear about your mum.

I’ve noticed that people with a family history of breast cancer are often referred for genetic testing, which makes sense given the awareness around it. But it does make me wonder why other cancers, like ovarian or gastrointestinal, don’t seem to get the same attention, even when there’s a strong family history.

I follow a doctor on Instagram who specializes in breast cancer, and he recently shared a case that really stuck with me. One of his patients had a tumor the size of a pea, and he explained that at this stage, it’s nearly impossible to detect by hand. But that’s really a first stage… Because of this, he strongly recommends regular ultrasounds to catch tumors early. I often think about it while frantically checking my breasts🙈

If you remember, please come back to this post and let me know how you got on. I’d be really interested to find out more and hear about your experience. I'm only stone throw from London so I'd be interested to find out more about this clinic as well

Not sure how helpful this will be as it was a while back and of course things /rules change but FWIW here's what happened to me:

In my early 40s whilst chatting to my GP about something minor I made a throwaway comment about my worry being ovarian cancer that my Mum had died of, she asked me whether any other history in family and I said no but my Muns elder sister had died in early 40s from breast cancer. GP asked me if I wanted to be referred to see if I would qualify fir genetic testing and I said yes.

Ended up going to local hospital and doing a family tree both sides and answering a ton of questions (my Dad also had prostate cancer) and was told I didn't qualify for genetic testing but I could go on a family link list so I would get yearly mammograms rather than having to wait til I was 50.

So I had yearly mammograms and due to this in 2022/3 it picked up a change in my left breast and I was subsequently diagnosed with very early invasive lobular breast cancer - Consultant opinion was that it had been detected 2/3 years ahead due to the very subtle changes between my mammograms - from what I've subsequently heard it is quite difficult for invasive lobular to get picked up on mammograms.

As a result of myself being diagnosed with breast cancer I qualified in NHS for genetic testing for breast and ovarian cancers and I decided to have the tests. I was very "lucky " that I had no genetic links and I also had my tumour genomic tested ( I think that's the right word).

I feel very thankful and immensely grateful to that original GP and the breast cancer team who looked after me

I had genetic testing but my breast cancer was triple negative so likely.

Thankfully it wasn't genetic and just a coincidence that my mother had the same triple negative.

Most cancers are not genetic not sure if the ones you listed are.

It's a simple blood test but has to be done while you still have cancer I believe

@BeaLola thank you for that, that intresting to read. Did they say why you don't qualify for the genetic testing? And also, sorry if it's a silly question but what is Family Link, is that just to qualify you for annual screening (mammograms?)

Before I had cancer they said I didnt qualify for the genetic testing (but obviously this was years ago) as there wasn't enough family linked to me who had died early from ovarian and breast cancers.

However as there were 2 females connected to me (Mum died of ovarian 60) and her sister died early 40 of breast cancer I could be put forward to have earlier mammograms - sorry that's all I can remember from that time.

I had private genetic testing after breast cancer. I think it was £400 for complete genetic testing (so testing for all cancer mutations not just breast/ovarian etc). Thankfully it came back completely clear. I had it because I had BC young (40). I just had to spit (alot!) in a tube. It was arranged by my breast cancer consultant.

GP here, OP. The reality is that most families will have multiple cases of cancer down through the generations - there are so many different cancers, and with people living longer it's something of an inevitability. There is no single cancer gene, and even for the types of cancer that can be related to a particular gene, most cases of that cancer won't be, but will instead be a chance occurrence, or related to other risk factors like smoking.

Red flags are raised when there are multiple cases of the same type of cancer (eg colorectal) within a family, or multiple cases of different cancers which may share a genetic link (eg breast & ovarian).

It's definitely worth having a chat with your GP, and would be useful if you could get confirmation of the specific types of cancers your relatives had - there are many different types, for example, that would fall under the umbrella of 'gastrointestinal'.

What are the rules in your area OP?
It’s absolutely something you can have done privately, but I’m not sure accessible under NHS.
Many of your family cancers sound age related? And these are different cancers, so not genetically linked.
If they had all died of ovarian cancer then you might have a case.

the link between the BRACA2 gene and cancer is strong. That’s why they test for it.

FWIW I’ve had genetic testing which found nothing and breast cancer, so it’s not a catch all:

Have you considered that you might have health anxiety?

I have had genetic testing on the NHS, though not cancer related.

IME, the thing with genetic testing is that they don't look across loads of genes for any random faulty ones it is a very manually intensive process and they search for something specific.

For e.g., in our family, the first person's diagnosis was strongly suspected by Drs. They did that screen first looking at a range of genes they suspected a fault in and located the specific faulty gene. This took several months. Then family members were screened looking only at that single gene that was known to be faulty and inheritable. Took a few weeks per person.

@AppropriateAdult Thanks, that’s really helpful. Unfortunately, I have no way of finding out. My mum passed away, and when I was informed about her final diagnosis in hospital, I was only told they did a gastroscopy and that it was everywhere. She was gone within two weeks—no biopsy, no further details. With my remaining aunt, it’s highly unlikely I’ll get any additional information either. But I completely understand where you’re coming from about being more specific.

@Newyeargymwanker
Thanks. Yeah some of them were definitely age-related. I wouldn’t say I have health anxiety about it—I don’t obsess over it. For me, it’s more one of those things where, if I can find out, I’d rather know than not, you know? I think I’m just trying to be pragmatic about it.

I had genetic testing on the NHS after a breast cancer diagnosis as I had some family history. I gave two blood samples and got the results (no genetic link) about 8 weeks later. They will keep my bloods on file so that as testing improves and expands to include other cancers they will test again. HTH.

I have Lynch syndrome which is a genetic mutation that means I'm more susceptible to certain cancers. I had genetic testing done through the gp but that was a long time ago so I'm not sure of the process now

I did a dna test via 23andme which loooks at some stuff inc one of the breast cancer genes, BRAC? Then a while later I paid £12 to Prometheus and downloaded my 23andme raw dna file and it looked at all my dna for a wide range of stuff. Took 20 mins for my report. No idea how thorough or accurate it is but reviews are positive

Dd is currently having her whole genome mapped by the nhs and they’ve said it’ll be six months for the result, not cancer related.

Hi, just ask your GP and see how you go. We have a big family history but all breast cancer so we had genetic testing. It came back clear but they said they are finding new gene mutations so kept dna on records to continue testing. Even without the gene me and sister are classed as high risk, have annual appts with breast nurse and now have been offered medications and annual mammograms from age 40 so I'm so pleased we have gone down this route.

@Powderblue1 ask your gp to send you to your local bowel cancer NHS family history clinic.

If you can get death certificates for relatives to confirm what cancer they had it will help.

Bowel and ovarian cancer can run together in a family so worth looking into.