To be underwhelmed by GPs response to the possibility I might have a genetic risk of cancer

[chocciechip]

My mother has five siblings. Out of the six of them, four have had breast cancer including my mother. One of those siblings is male, and her older sister has had a recurrence.

Mum is being treated in South Africa by a top oncologist (a professor), who said it was quite unusual, and very significant, for one set of siblings to be so affected. Mum has been tested to see if she carries the gene and the result came back negative. Her oncologist thinks the test result is flawed and wants her to repeat it, and he has stressed that my sister and I need to be tested. He is emphatic that there must be a gentic element.

My dad has prostate cancer and is being treated by a different oncologist. My parents spoke to him about Mums test and he agreed with her oncologist and also was apparently very insistent my sister and I should be tested.

So I discussed this with my GP who seemed remarkably unbothered by how many have had it in my family. She told me there was a 'checklist' (not the word she used but what I understood) that needed to be met for me to qualify for testing, including how many close relatives have had cancer.

I got the impression that if my sister got cancer, I'd be tested, but all the aunts and my uncle didn't really count.

My grandmother died of emphysema, so how could I know if she might have eventually got breast cancer, or even if she had it and no one knew because she had a bigger immediate demon to deal with?

But what if I get it before my sister? We have also been warned by mums oncologist that we might be at higher risk for other cancers too. I have two very young DC and I'm in my early 40s so I am worried. I would like to take measures, if need be, to reduce my risk.

GP has deflected my concerns by asking me to find out ages everyone else got it. So I am doing that but I am feeling I'm going to have to make a case, or something.

What would you do in my shoes?

Going private will make no difference. You just need to give the information that your GP requested and they can manage the referral properly from there on. Without that information it is likely to be refused.

We're very much at the start of understanding how genetics play a significant role in diagnosis, risk analysis and treatment options. Your GP is simply following current guidelines.

Thanks for the responses.

I think the reason why I am anticipating difficulties is because, while I was trying to tell my GP the reason why I was flagging cancer and testing etc, she cut me off, actually with hands up and palms facing me, and said "let's first find out names and dates, etc..." and didn't really entertain further discussion on it. It wasn't the reaction I was expecting. Yes, it was a bureaucratically appropriate response, but I left her room feeling slightly chastened and tearful and hadn't said half of what I wanted to say to her. Hard to explain ...

I annoy myself with being diffident in the moment. It's only when I come away that I think I should have not accepted that. So I'm lining up my ducks now in anticipation of more of the same.

In contrast to my experience, what happened with my mother was she and two of her sisters went for mammograms together. She didn't expect anything to be wrong with her but they found the tiniest little lump - she couldn't even feel it - and she got the shock of her life. She saw the oncologist before her sisters got their mammogram results and initially she was only going to have the lump removed. But when the oncologist subsequently learned that one of the sisters had a recurrence, and that mum had also found out her brother had had cancer in his 40s (she was only told by his wife with her diagnosis) the oncologist recommended a double mastectomy. Mum had surgery within a week. And that was regardless of genetic test results. He also called my sister in to talk to her to stress she needed to get tested etc.

I've already been through the breast cancer screening route twice here in the UK (which I told the GP) and it takes longer than I'd expected - which is scary when you have a lump. I had a biopsy on my breast four years ago as well. I really wanted no unnecessary delays and would rather pre empt cancer than deal with it by surprise.

I would almost certainly have an elective mastectomy; I have two tiny children so to me this is a no-brainer. Also, I feel I need to know how to deal with this because it affects my children's health too and I need to stay on top of changes in guidelines etc as they age. In fact, it is their risk that I find the most distressing. And I need to think about regular screening for myself and how and when - factoring in too that I might be at higher risk for other cancers too.

I am aware of the guidelines - one of the cancer charities has an online tool you can use to see whether you'd probably be eligible for genetic testing, and according to their tool I am.

I suppose my starting point is an awareness already that I am dealing with something potentially important, and I already feel frustrated that it seems I'm going to have to argue the toss - and I hate that. I guess I'm looking for advice on how to push my way through a resistant system if need be. I am expecting this from the GPs response, but also because the system has 'form': I had to fight for fertility tests too a few years back and it turned out DH had issues even when we were assured he didn't.

I think I will try and get a letter from mums oncologist to back me up as suggested. And I will definitely try another GP when I go back.

Just to say too that I've wondered about the life-style element even with so many affected. With the exception of my mother, all her siblings smoked for a long time and they drink heavily. Her brother was an alcoholic. So I've wondered if life-style might be the key factor. But that's something I can't just assume.

choccie
The guidelines are clear so just provide the info to the GP and you will get into the system. Once you get past the GP you will be talking to experts. Your GP doesn't have much choice but to tick the boxes so the quickest way through is to provide the details they need.

The Doctors stressing to your parents about testing in SA likely have a private practice i.e. they have 2 goals, money and medicine. Your GP isn't likely to clutch her bosom and wring her hands, by your description she has asked you for a full picture to answer the test criteria that our Health Service uses. That seems reasonable to me, I am sorry that you are worried and that your family members are ill but you are being a wee bit dramatic in feeling abandoned by your HCP so early in the process

I wouldn't necessarily be impressed by your DM's doctor being a Professor either. Working in cancer there are lots of professors - including some I wouldn't trust to treat my cat. And many non-professors who are highly skilled but not interested in the academic professorial route. It doesn't necessarily mean much and different countries give them out for different things.

I'm afraid QueenofallIsee may have a point if your DM has been treated privately in SA as well. There are big cultural differences in how cancer is treated between countries as well as differences between private and state care. Private isn't always better.

If you meet NICE criteria for referral, you should be referred. The genetics service then contact any relatives with cancer for their consent to disclose medical records about their cancer. Ages of onset are important.

However, if your mum doesn't have the gene, you won't, unless you got it from your dad. The genetic testing won't be perfect, but then neither would any test done on you.

I bet the online tool is for referral to a genetics service, not criteria for genetic testing, as quite complicated formulae based on who had cancer when are used to calculate a risk, to differentiate between high and moderate risk, and who should be tested, and for which gene.

Sorry, I realise I sound unsympathetic. I've been through this, so I know it isn't much fun to think you could have an inherited tendency to cancer. However, only a tiny number of cancers are hereditary, and even if you had every known gene test, you could still get cancer in your twenties, life is like that. Try to just gather the info, and go with it, and not fret too much. There's probably more chance of you being knocked down by a bus than getting an inherited cancer from that side of the family, if your mum has already tested negative.

Following on from nocheese's post. I did wonder if your GP's reaction was down to a lot of people thinking genetic cancers are a lot more common than they are. From memory only about 10% of BC is genetic. Your GP might have had a number of people coming in with vague concerns so has got into the habit of insisting on factual information.

I assume the Dgrandmother also smoked as died from emphysema?
I would try to stay calm about it get the dates ages etc and then if they still dont do anything take it further.
How old are DM and DF now?
As my DDad had prostate cancer. Its really common post 70 but wont always kill for say 10yrs so lots have it but wouldnt necessarily die from it even without treatment unless its fast growing.
If you had fertility treatment could that raise an existing risk higher?
It makes sense to identify what caused your mums cancer first as if they cant identify that and there is no guarantee you would have it.
Does things like bf reduce risk even with brac gene?

DM is 63 and DF 73 (although I don't feel DF's health is a factor here). DM is the oldest of the siblings to be diagnosed: her brother had it in his late 40s and other sisters in their early 50s.

No particular advice OP, my mum also has breast cancer. I don't qualify for genetic testing or screening but my mum has no sisters and neither do I so I'm wondering who they're expecting to get cancer before I can get tested. Again, I'm concerned for my dd, I would just get the double mastectomy for myself and be done with it.

I don't know if BF has any bearing on cancer if it's genetic: those are the sorts of questions I'd like answered if applicable. I have BF though, partly for this reason. As it happened I didn't have fertility treatment in the end, but without knowing I had a potential risk ( at that time) I would not have factored that into my decision-making process and probably would have gone ahead (we were due to start treatment when I became pregnant).

Did your uncle have a primary breast cancer? Are you Jewish? If your uncle had a primary breast cancer, then you should be referred to secondary care. Unless your mum has had genetic testing and is negative, which appears to be the case. If your mum doesn't carry a breast cancer gene, she can't pass it on to you, you have the same risk as the rest of the population. Your mum's cancer at 63 is probably just from her background risk.

If I were your GP, I'd probably refer you to secondary care. However, they will want your family history, in detail, including exact cancers, and ages. If you can give this info, that's best, and then they'll confirm that all by writing to your relatives and asking for consent to access their records. This isn't a 'rock up and get one of those tests' situations. You're going to have to give all the information, and it'll take a while. Your GP probably wasn't underwhelmed, just needed all the info to make an appropriate decision and probably gets a lot of people who say 'cancer runs in my family'. However, cancer is common, if you live long enough, you'll probably be able to find some sort somewhere, so it runs in everyone's family!

I think the key thing for you is to check your mother's testing. If she is really negative for both BRCA and TP53 genes, chances are if you get a breast cancer, it's by chance.

I'm moderate risk, from my family history so I get some extra screening. I wasn't offered genetic testing, despite having a proven family history, because I'm more likely to not get breast cancer than to get it.

If you don't get genetic testing, it's good news, not them being meanies. Don't fret. It's worth getting your family history looked at, the male breast cancer would particularly concern me, but if your mum doesn't have the gene, then I wouldn't worry so much, if it were me. But, obviously, you should see your GP with all your details.

It explains here why, if your mum has had negative genetic testing, you don't need tested:

www.breastcancer.org/symptoms/testing/genetic/who_to_test

If your mum's oncologist is repeating her genetic testing, I would await the outcome of that, before getting worried yourself, or for your sister. If it's negative again, she has a sporadic breast cancer (as most are), and you have the same risk as the rest of the population.

I am waiting to see specialist team to see if I'm at risk. My Dad has prostate cancer, my Mum died of ovarian, one of her sisters died of breast cancer early 40s, another from cancer , and I've had fertility treatment. What will happen I don't know. My GP referred me - since becoming an older Mum I've worried a bit about it - want to be there for my son fir as long as I can be.

Breast feeding is supposed to reduce the risk of getting breast cancer but my mum breastfed 3 dc each for 1 year. She still got breast cancer.

Greencurtain
Sorry to hear about your mum.

I think its worth remembering that outside of the fairly small percentage of Breast Cancer that is genetic, one of the largest risk factors is age which is something none of us can do anything about.

BeaLola, what will happen next is you'll be given a form to fill in, in as much detail as you can, about who, when, where, what cancer, and ages in your family. Then you will get a clinic appointment, if your family history meets their criteria on paper. They will also ask for your consent to contact all those living who you've said had/have cancer, to get their consent to find out about their cancer from their records. They will research the cancer register, and/or death certs for anyone already dead. They cross check the info, and then work out whether your family fits and of the known patterns, for any of the known genes. They will explain the risks of cancer, and give lifestyle advice (which is the most important, as these are the risk factors you can modify- you can't change your age, gender, or family, sadly.)

If you fit a particular pattern/risk, they will either offer screening from a younger age, or genetic testing. Only after genetic testing, and discussion of extra screening options etc, would they even consider offering surgery etc. It's a huge faff, and lots of information to take in, but while the anxiety can make it feel urgent, it's not- you're not ill now. So, go with the flow, get all the information you need to make informed decisions based on an informed calculation of risk. Try not to worry, as that won't affect any of your risk factors!

Nocheeseinthehouse

Been away. Wow thank you for the reply - hugely appreciated.

If you're this worried, wouldn't it be worth looking into how much it will cost to be tested privately?

The Doctors stressing to your parents about testing in SA likely have a private practice i.e. they have 2 goals, money and medicine

And oncologists are not usually experts in the genetic inheritance of disease anyway - they know a lot about how genes influence treatment but the experts in genetic inheritance of breast cancer are usually breast surgeons with a special interest or clinical geneticists.

As others have said, it is unhelpful and unkind for the oncologist to be stirring up the anxiety in the wider family when - as the link from nocheese explains, you are not at increased risk if your mother's tests are negative. It would have been much more sensible for the oncologist to have repeated your mother's tests then advised her accordingly - another reason to think he is perhaps not the great expert he claims to be. If you want to be underwhelmed at anyone - be underwhelmed at him. It is actually quite unethical behaviour on his part.

Just an update . I have had my appt. I am going to get a mammogram early and then ongoing plus referred to a genetics team.