I was dx almost a year ago (aaaggghh, during October, never a good time to get dx, but during bc awareness month - ugh). Anyhow, I had an mx/anc/chemo/rads/tamox. etc etc - and want to have the tests done to see if I carry either BRACA gene.
I spoke to my gp today, and she is sympathetic, and has written to the gene testing unit in Southampton, and told me to expect a questionnaire to fill in, so they can decide if I fit their requirements for testing.
Here is the rub: I am adopted. I have NO family medical history. My initial consultant told me that that meant my daughters (three of them) would not be at any higher risk, as I am the only relative with bc. My argument (which my gp concurred with) is that actually - viewed another way 100% of their maternal relations have breast cancer.
Has anyone else had to apply for gene testing with no family history to back up their application? Any advice? I would rather clinch it first time than have to appeal, and appeal, and appeal…
Hiya
best of luck with the application. I think the criteria for nhs testing is quite strict- but surely the fact that u don’t know if there is a family history of bc, means that your case should be given some sort of special consideration? I can’t believe ur consultant said ur the only relative with bc- how can he say that? If you know nothing about your biological parents then you obviously can’t rule out (or in) a genetic influence!
If you do get refused and decide to go down the private route, give me a shout as I paid last year + shopped around + found huge differences in cost + wait for results.
Good luck x
Thank you for that, I wouldn’t have a clue where to start looking if I have to go private! Would def. do it if I had to - my first reaction on being told I had bc was ‘oh god, I have three daughters’… I can deal with ‘me’, but I desperately want to know if I might have passed it on - and at least if I get tested, we know if I carry the genes, and even if nothing shows up, at least they will have the dna from a family member with bc - which they would need if they were to be tested themselves in the future.
Most breast cancer is not due to a fault in one of genes, but as you say without knowing your history it is very difficult to assess if you are likely to be high risk for one.
If you are refused genetic testing, you might be able to get it through being in a research study. Would be worth asking about before going down the private route. I actually did get testing (no mutation found) but I am also in a study which would tell me if they had found a mutation.
Good luck with obtaining genetic screening. However, be prepared for non-conclusive results. I have 2 ‘strands’ of cancer in my family (bowel/brain/ovarian and breast). I am over 2 years into genetic testing and there are more unknowns than knowns. I do have a BRCA1 Variant but it is “of unknown significance” so we do not know if it was responsible for my breast cancer, or any of the other cancers in my family. I’m no further forward in knowing whether I should have a prophylactic mastectomy or whether I’m at high risk of other cancers.
I also have 2 daughters and have been offered gene counselling. I’ve filled in my form and sent it off to the genetics unit. My sister (age 36 and hasn’t had BC) has already had counselling and been offered the test as all the women going back to my greatgrandmother have had BC.
I really hope you get the test, it just seems something else to worry about …
Rachel that is really unusual for a non affected person to get nhs testing. If her result Xmas back negative you won’t know if that’s because she didn’t inherit the gene change or because in your family it might be a gene that hasn’t been identified yet.
Just over 5% of breast cancers are genetic. Even where somebody is in their 20s the chance of it being genetic rises to 30% so that’s a 70% chance of it being random.
We do not test people who have been adopted or where we have no known family history Eg they died over seas and know records exist.
If you are under 40 at diagnosis your daughters would be eligible for early screening. But to fit the criteria for testing you need to have 1 individual with both breast and ovarian cancer or 4 with breast under 60 or ovarian at any age in 3 generations or have at least 20 points on the Evans/Manchester score… This is a points based scoring system on types if cancers and age of onset.
You can get tested privately but I think it’s in the region of £2-3000 so it’s quite a lot of your own money for it to come back inconclusive which is what most do.
