Hi,
My sister will take the genetic test to see if she is a carrier. We don’t have a known history of breast Cancer in the family. I would like to know what this test achieves and what are the consequences of the results.
Has anybody had this test or has a family member who took it?
Comments/advice welcome.
I don’t have much info, just what I’ve (briefly) been told by my consultant. I was adopted, so I have no family medical history whatsoever, and my first reaction on being diagnosed was ‘oh god, I have three daughters’. At first they tried to tell me that my girls would be low risk, as I was ‘the only one diagnosed with bc in the family’, until I pointed out that as their ONLY female relative, that means 100% of adult women in our family history have been diagnosed… which made them view it a little differently.
I was told that I can be genetically screened (or rather, a blood sample will be) post treatment, and that that blood will be kept in storage for years - even if it shows none of the known genetic markers available today. Therefore, if one of my daughters wants to be tested, even 15 years down the line, there will be comparison blood available from a family member who was known to have had breast cancer. New genetic markers are being found all the time - so testing negative for the ones we know about today, is not the same as being positive that there is NO genetic link, and I think that’s important to remember.
The only thing I know for certain is that they have to have a comparison sample of blood from a family member who has already been diagnosed - they can’t just take blood from someone fit and well and screen it to see if there is a genetic mutation - they need a ‘positive bc’ sample to compare with.
Not a lot of info, I know - hopefully someone else on here can give you more advice.
Sophie xx
Hi getting six family results on the 17th Jan. Wil let yu no how it goes and what they say about it. Dont say much till u get your results.
My wife has just tested positive for BRCA1 - hardly a surprise as it is rife throughout her extended family.
If there is no family history then it is unlikely your sister’s cancer is genetic, but the test will confirm this.
Being BRCA1 means my wife has a 50% chance of passing the faulty gene on to each child, who, if female, has a 60% - 80% chance of developing b.c. before 70, or if male, will have a possible increased chance of prostate or breast cancer (to be confirmed). Each child then has a possible 50% chance of passing the gene on. Similarly there is a 50% chance of my wife’s siblings each having the gene and a 100% chance of her mother or father having the gene (in her case mother)
The good news is 21st century treatments for specific genetic cancers are fast on their way (chemotherapy and radiotherapy are medieval by comparison) and your sister may be suitable for a parp inhibiter trial
Hope this helps
I had the genetic test even though there was only 1 cousin on my dads side who had breast cancer in her thirties, but when my onc found out my dad died of pancreatic cancer also in his thirties she said I needed to be tested as it is the same gene.
My Dad was 1 of 6 boys and out of all my cousins there are only 4 girls, so I didn’t fit the normal criteria for testing, but at the appointment the nurse said she would test me anyway. The nurse explained what the options were if I did test positive and was very through.
I got my result back a couple of weeks ago and have the BRCA2 mutation. My brothers are now going to be tested and I have to tell all my cousins as well and they have to make the decision if they want to be tested.
I have decided to have my ovaries and fallopian tubes removed because of the increased risk of ovarian cancer (10-50%). I am waiting for an appointment with the gynae onc. Luckily although I have 3 children, so I don’t have to consider fertility. I had a mx when I was diagnosed with BC earlier this year and will have another mx next year.
BRAC 2 also increases your risk of pancreatic cancer, melanoma and if you are male, prostrate cancer and male breast cancer.
I have found the result hard to accept but at least I know and can make decisions about reducing my risk.
Hi cat, sorry you got bad news. I was wondering how long you had to wait for your results, also what hospital did you have it done at? I have been waiting nearly 6 months.
Sharon
i am BRCA2 positive which was diagnosed in january this year… i inherited the mutation from y dad and i am the only person on the side of the family to have had breast cancer which i had at age 37 and 40… my dads uncle died from pancreatic cancer at 43 and his cousin from ovarian ca at 45…
carrying a gene increases your risk of getting cancer of any type but most arent significantly increased, however my family had oesophageal, throat and rectal cancer all developed at fairly young ages which are most likely down to the gene.
scroc your sister was maybe very young or perhaps you have other cancers in the family like ovarian ca which may increase your risk of carrying a gene mutation. for most people who have a gene test there is no mutation found… only about 10-20% of those who fit the testing criteria will test positive… no gene being found however doesnt decrease your risk it just means there may be a gene present but one that hasnt been identified yet.
if you dont have a family history of breast or ovarian cancer im very surprised they are offering testing as the criteria is usually pretty strict.
one of the positives about finding a gene is that you can get screening from 25 and mammos every 2 years from 30 and from next year you should be able to get an annual MRI up to age 50. knowing you are a gene carrier means you have the opportunity to have prophylactic surgery (although if you have a significant family history without a gene you can also). if you have a gene in the family and you test negative for that mutation then your risk is reduced back to population risk.
some of the negatives are there isnt any recognised ovarian screening programme. some people feel like its a death sentence (and some dont want to be tested). some people have difficulty getting insurance and mortgages when they are known to carry a mutation although the british assoc of insurers have an agreement that it wont affect insurance up to £300,000
here is some info regarding genetic test and insurance…
abi.org.uk/Information/Consumers/Health_and_Protection/44578.pdf
Lxx
Thank you for your comments. In the end my sister was denied the genetic test as we don’t have a history of BC in the family. Unfortunately it has served to increase our fears and speculation- whether she should consider a second mastectomy, consequences for myself (I was advised to have 6 monthly screenings) and the consequences of future females in our family.
Sharon I had the test at ST BArts in London but it was carried out by the North Thames genetic service run by Great Ormond Street Hospital. I had the test at the beginning of July and got the results in the middle of October.
They explained it could take up to 3 months to get the result. She said it was like looking for a needle in a haystack. If you were lucky you would find the gene in the first lot of DNA. If you were unlucky, you would find it it the last bit to be searched!
Hope this helps.
Cat
Scroc
you get points for all the cancers in your family and the more points the have the more chance you have to get tested but also the more risk you have of getting cancer so the fact that your family isnt considered high risk should be reassuring for you, that both you and she are not at increased risk and that her cancer was most likely a sporadic one off incidence which is what most breast cancers are.
as for screening you will find that you dont get 6 monthly screening unless you are a gene carrier or an affected individual, otherwise screening is usually from age 35-40 and consists of annual breast exam and 2 yearly mammo till 40 then annual mammo and breast exam till 50 when you would be discharged onto the national breast screening programme and have 3 yearly mammos.
Lx
Lulu,
thanks for your reassuring comments.