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?

I have a similar situation with ovarian cancer. I am monitored, but there is no reliable genetic test at the moment. I understand the significant age is 40, the deaths in my family have occurred before 40, so I get screening.

Your GP is probably trying not to worry you about it when as it stands there isn't anything to worry about. The ages probably are of some significance.

I would probably do a bit of research and ask your GP directly for a referral to a specialist who could put you forward for a test (BRCA gene?) if you want it. Ask to see another GP if you don't like the current one. Ask for a letter from your mum's oncologist too.

I know someone with the gene who lived into their 90s without getting cancer BTW.

The thing with the NHS and screening, is that it only works well if there's something you can actually do about it if you find you are high risk.

ie would you have a mastectomy? Would you have regular screening that you wouldn't have anyway? Is there anything you can do to mitigate a genetic risk if it's present?

I'm not sure of the answer, but If the answer is no, it's a hard thing for the NHS to deal with. You may get a better result if you see a private geneticist? Although I'm not sure what sort of follow up would be suggested.

I am in a similar situation.

I would like to be screened for the breast cancer gene because a number of my female relatives suffered from it, most of them at an early-ish age and almost all on my mother's side of the family.

If necessary, I will have a double mastectomy.

My GP gave me a form to fill out with the ages/types of cancer etc of my close relatives. I was asked to include male members of my family too. I initially thought he was fobbing me off but I can see having gone through the form that the more information they have on the types of cancer and the relationship to you of those who had the disease, the better they can advise you.

OP, I definitely think you should pursue this. However, I don't think your GP is being unreasonable in asking you to get the ages at which family members got cancer, because this is a real factor in determining your risk. It is not 'fobbing you off' and will actually be sent to the genetics service if you do meet the criteria.

There are strict rules about who qualifies for genetic testing because it is very expensive. Also, not all areas have a proper genetics service in place (which is a disgrace). However, I am almost certain that you will meet them with a family history like that and be entitled to a test.

You may also be interested to know that lifestyle factors can really make a difference - losing weight, not smoking, and cutting your alcohol intake all decrease risk.

Also, creampie - there are things that you can do if you have BRCA or TP53 genes. People have already mentioned surgery, but you also qualify for a more frequent high-risk breast screening programme commencing at a younger age and using MRI, so any changes are picked up more quickly.

Interesting. I went to an update talk recently and i was quite surprised that the aunts weren't as important but then you share less genetic material with them. Six does sound like an awful lot though.

I'd go private if I were you.

Your gp is right to ask the ages. Any referral for screening includes a family tree with ages and types of cancers. The male breast cancer is interesting.

I'm assuming your mums test was for brca gene? The test doesn't change so unless they thought the lab procedure went wrong etc in South Africa.

Before you have any screening sent, the genetics service should/would advise genetic counselling. Patients can struggle with the knowing/not knowing v knowing and worrying v wanting/not preventative procedures.

People who develop a certain type of breast cancer before a certain age are automatically sent for genetic testing, so age at diagnosis is relevant.

Sorry I hadn't finalised but it posted. This link gives good information for the screening guidelines. Hope it works
www.nhsggc.org.uk/content/default.asp?page=s1154_3

Your GP can't send a referral letter to Clinical Genetics just saying, "this woman says she's got lots of relatives with cancer."

They need to know who, when, what, so that the Genetics service can advise them and you the best.

Perhaps it is to do with your healthcare trust/location? An ex of mine had two parents with cancer that they both were diagnosed with before 40 - he was sent for genetic screening. I would pursue it and could you go private? Is that financially viable?

My best friend is currently dying, just months after first diagnoses of breast cancer at the age of 31 because she didnt 'tick all the boxes' to be tested for the gene.

Her father died of cancer her mother had breast cancer and she is dying of cancer.

All because she wasnt sent for gene testing when she asked.

OP please, please, please go private. Get those tests done. Don't let them GP deflect this. Don't.

The current known genetic risk factors confer an increase in risk for pre-menopausal breast cancer, so the ages are very important and the "eventually get breast cancer" argument is irrelevant. She wasn't brushing you off, probably trying to stop you getting too worried. Genetic risks post menopause are not so clear cut and well understood (also much more likely to be interaction effects with environmental factors). Also, you aren't actually presenting at the doctor with any breast lumps or symptoms, so she would be un-bothered, doesn't mean you wouldn't be fast-tracked with an actual symptom.

As your mother tested negative, I would hold out for her re-test before going back to the GP (shouldn't take too long) as then you will know which test you require (if your mum is positive). If it is a genetic risk yet to be identified, there isn't much you can do but keep more vigilant and check your breasts more regularly. You could ask for extra screening based on family history, but the genetic testing is not worth asking for if your mum is negative for the known gene variants.

I suspect the professor thinks he might identify a new risk factor in your family and the more family members he can run tests on the better. He sounds a very academic doctor (not very patient friendly to worry someone about their daughters and then tell them the reassuring negative test must be flawed). I work in academia and sometimes the best researchers can forget the human cost of the interesting things they say to their patients.

I'm a GP and I often ask people at an initial consultation to come back with exact details, ages (when that info is available) - there is a risk of the referral being bounced otherwise. I then use the NICE guidance (link above) to determine whether they qualify for an NHS referral. So I think your GP is perfectly reasonable. 2nd degree relatives (aunts and uncles) do count for less than first (parents and siblings) but it is the whole picture that is important. Go back with the information and you should be fine.

I agree with the others, there are clear guidelines on the criteria for testing. I was given annual mammograms from my mid 30's because my DM had BC in her 30's. If she had been a few years older then I might not have qualified. If you meet the criteria then you will be referred for screening.

choccie
I should add that, I do understand how you feel. We are all giving practical responses here but it is horrible feeling that you might have a high risk of cancer. I felt for years that I had a sword of Damocles hanging over me. I am now several years older than my DM was when she developed cancer so my risk is now regarded as the same as everyone else. However, she died of a rarer cancer in her 50s so I do keep an eye out for symptoms but there is nothing they can screen for.

A close friend of mine recently died at 41 , of a thankfully rare type of breast cancer diagnosed aged 40. Her Aunt also died of breast cancer in her 40s, and her mother's side isn't known as her Mum was adopted. My friend's sister (and mother) have just been refused testing on the grounds that there isn't enough of an obvious risk. I think she may have the test privately now, as the oncologist said it was almost certainly genetic. In your case there does look as though there could well be a genetic factor, but as a pp said it may be an as-yet unidentified gene. If you go back to your GP with ages etc and you are still refused testing then I would try another GP first and then consider going private. But it would help to have a sympathetic GP as if it is an unidentified gene then having more frequent and detailed checks than normal would make sense. I understand how scary this must be for you. My friend left a small child and I am terrified of getting cancer now, even though I don't have an increased risk via my family. I also worry about my friend's sister . Hard not to worry, which is why having more info might be helpful for you. Good luck .

Oh and lumpenprole- for you too. I have just been through this so I really feel for you. So sorry to hear that.

Make a case, as much detail as poss. Could your Mum's oncologist write a letter?

I've been told an Aunt doesn't count (just one so i am not particularly concerned)

Think about going private

We have a family history of bowel cancer, my dad had it at 50, as did DH's dad, so we both have screening, Started 10 years before the age when the parent had it. When I was in my 20s my GP referred me for screenings because I was so terrified about having the condition and I was so grateful. There may or may not be a genetic link, but most likely it's lifestyle and diet related, so we're very careful about maintaining a bowel friendly diet. Especially for DCs, as both grandfathers had this type of cancer.