69227members
363447posts
cancel
Showing results for 
Search instead for 
Did you mean: 

genetics testing question

15 REPLIES 15
Member

Re: genetics testing question

Hi Gingernut

Thanks so much for all the information, the MRI scan does sound like a good idea, at the moment i\'m not having any kind of check ups and it\'s worrying me sick while i\'m waiting to find out about my appointment so i will look into that further.

Take care
Marie xx

Member

Re: genetics testing question

Intersted to I am also interseted in finding out about genetic screening, does anyone have any info on this?

xx

Member

Re: genetics testing question

MRI Scanning Hi Marie,

just thought of something else you might not be aware of.
The Magnetic Resonance Imaging Team at the Royal Liverpool Teaching Hospital offer MRI scans to high risk women for £60.00 (that how much it was earlier this year anyway)!
I was part of their MARIBS study which was a comparison of mammography and MRI screening to detect breast cancer. The study results were extremely encouraging - the MRI detection was as high as 92% in some of the cases and higher than Mammography in all cases for younger women.
You may not be aware but mammography isn\'t very successful in detecting cancer in pre menopausal women anyway which is probably why they\'ve stopped offering them to you.
MRI scanning is painless - not in the least uncomfortable unlike mammograms (god I hated those).
The MRI team are pushing to have MRI screening made more widely available, but like everything else - its down to cost in the end.
Give them a call, its worth £60 of anyones money for the peace of mind. A day out in Liverpool is good too!
regards
Gingernut

Member

Re: genetics testing question

Check out your Dads side Hi Marie,
Don\'t just look at you Mum\'s side of the family. When my sister died of BC at 36 my Mum had it at the same time so we assumed it was passed down from her. It turned out it was passed down my Fathers side - the history was staggering when we did the Breast Cancer \'family tree\'.
For quite a few years i was unable to have the gene test as all but one of my (many) relatives had already died from BC.
We got a breakthrough after the Alder Hey Hospital organ scandal - i\'m sure you will remember, when it was discovered that body parts from children and babies had been kept without their parents consent.
Following the publicity from that my Mum wrote to the hospital in Belfast where my sister had been treated - and yes, eventually we tracked down some tissue samples they had kept and the gene test was achieved.
I am BRCA1 positive as are several of my cousins.
So don\'t give up - you might have to stand your ground and insist on being seen by the genetics people - but it can be done.
Good Luck.
Gingernut

Member

Re: genetics testing question

Hi Lorraine

Thank you for your reply and for the information.

I have at last after many phone calls been referred to Great Ormond Street and just now waiting for my appointment to come through. As far as i know there is no one else on my mums side with bc, but she was an only child, so was her mum, and my grandmother\'s mum so there are very few relatives, i am also an only child. If my mum had had sisters, who knows.

I guess i have just go to wait and see what the genetics team say.

Thanks again for the information.

Love Marie x

Member

Re: genetics testing question

Dear Marie

I am sorry to hear that you will no longer be offered screening. If they say you are at high risk, what is their reasoning other than the system has changed for them to refuse you?

I too had to fight my corner and even though they tell you its the system, just be strong and keep fighting their decision.

They cannot just tell you that your are high risk and then stop offereing you mamograms. I was told I was too young at 36 to have mamograms but kept going back to my GP and insisting that I should be in the system as my mum had died of breast cancer 10 years earlier at the age of 46. Eventually he agreed, by then, my uncle, and 3 cousins were diagnosed. If you keep up with the pressure hopefully they will listen to you.

I have attached some information which might be of some help. Is there nobody else in your family before that you know of that had Breast cancer.

Inherited faulty genes
A very small number (from 1 in 20 to 1 in 10) of breast cancers are thought to be caused by inherited faulty genes. Two breast cancer genes have been identified: BRCA1 and BRCA2 – others may be found in the near future.

Breast cancer is a common cancer and about one in nine women in the UK will develop it during their lifetime. So, in a family if just one or even two elderly relatives are diagnosed with breast cancer, it is not likely that the cancers could be caused by an inherited faulty gene. Other family members would not be at high risk of developing breast cancer.

However, if you have any of the following in your family, you might want to speak to your GP and be referred to a family cancer clinic:

three close blood relatives (from the same side of the family) who developed breast or ovarian cancer at any age
two close relatives (from the same side of the family) who developed breast or ovarian cancer under the age of 60
one close relative who developed breast cancer under the age of 40
a case of breast cancer in a male relative
a relative with cancer in both breasts.

Take care

Lorraine

Member

Re: genetics testing question

Hiya Sandra

Thank you for your reply. So sorry to hear about your mum and your sisters. I can imagine how relieved you must be having preventative surgery.

The problem I have is that I am an only child and so was my mum so I have no other family. The only case of bc is my mum but because she was so young (34) this is why I worry so much and think it must be because of a gene fault to strike so young.

I am waiting for an appointment to come through from Great Ormond Street so I will see what they say and see if they would do preventative surgery for me without a genes test. I dont think i could be tested anyway as i have no relatives.

Thanks again and take care

Love Marie xxx

Member

Re: genetics testing question

Hi Marie I have had a preventative double mastectomy, and reconstruction, and have not had the genes test yet, i think it depends on how strong your family history is, but because my Mum died at 43 (i was 9) and my eldest sister at 43, then my next sister at 49 i was able to have preventative surgery without having the test i was also 43 at the time, and because my sister had just been tested for the gene and i was told that it would take 2 years for the results to come back, i felt that i could not wait that long, with my family history. My sisters results came back exactly 2 years later, and 6 months after she had died.(she tested positive for the brca1 gene.) I now feel so relieved that I have had this surgery, and am now going on to have my ovaries removed on the 27th of this month, then I will go and have the genes test.

Sandra

Member

Re: genetics testing question

Hi Marie,
I am sorry to hear that the test isn\'t available on the nhs yet. You should still be able to have preventative surgery though. You probably need to get back in contact with the genetics clinic and have a chat with them, and they can organise this for you. I am also thinking of going down this route within the next 9 years or so, especially if no gene is found in our family. My youngest aunt was 40 when she was diagnosed so I know as I get nearer that age the prospect of getting breast cancer increases even more.

Good luck.
BTW there is other posts on here about preventative surgery etc so I\'m sure you\'ll get lots of advice if you post on those.

take care
love
Justine
xx

Member

Re: genetics testing question

Hi everyone

Could someone tell me if it is possible to have preventative surgery on the NHS if you haven\'t had a positive genes test? The reason I ask is because I have no living relatives to be tested for the gene. I know there is a new test for people like me but I don\'t think it\'s offered on NHS yet and unfortunately I dont have the money for pay for the test.

If I can\'t be tested to find out if I carry the faulty gene, I will seriously consider surgery anyway.

Thanks ladies

Love Marie x

Member

Re: genetics testing question

Hello Lynne

Thank you for your reply, it has been really helpful. I think if i find out that i am carrying the faulty gene, I too will have preventative surgery, all i do at the moment is worry as although I was only young when my mum died, her suffering and what she went through seems like yesterday, and the thought of my children losing their mum is unbearable. I am definitely off to the Hospital asap.

Thanks again

Take care

Love Marie x

Member

Re: genetics testing question

There is still a small risk.... Hi Marie,

I\'ve read your questions as I was almost in the same situation as you. I lost my Mum to bc 17 years ago, she was diagnosed when she was 47. Her sister also got bc in both breasts about 5 years after Mum died. Mum\'s sister, my Auntie had the test done and it came back as BRCA2, myself and my cousin were then offered the test last year. (I had been attending the family history clinic for 12 years at that point). We both came back as having BRCA2.

I have just had a double preventative mastectomy with immediate reconstruction (I too was worried that I was coming up to the age my Mum was when she was diagnosed with BC). I was told that I had an 85% lifetime risk of developing bc without any surgical intervention on my breasts or my ovaries.

I had my ovaries removed last November (as part of a total hysterectomy) which the genetics department said would halve my lifetime risk of bc. I then went onto have my mastectomys this July. I visited my breast consultant in August who said that my risk now is very low, probably about 2 - 3 % which is a huge difference from 85%!!
There is still a small risk as the surgeon cannot be absolutely confident that they have removed every brest tissue cell, but because of my reconstruction (I had a TRAM flap) the muscle is now just under my skin, so I am told if anything does start up it will be much easier to locate therefore an early diagnosis can be made with sooner treatment.

I hope that I\'ve helped, I know its very difficult and I think the stage that you are at is the worst as before you have a definate BRCA gene detection its very difficult to make decisions.

Good luck,
Lynne x

Member

Re: genetics testing question

Hi Justine

Thank you so much for the information, I will definitely visit the Hospital to see if they will test me, I am releaved to hear i can still be tested. I will also ask to see if any samples were kept from my mum.

I have one more question that may sound a bit silly, but if you have preventative surgery does this mean that it\'s impossible for breast cancer to develop?

Take care and thanks again,

Love Marie xxx

Member

Re: genetics testing question

Hi Marie,
yes it is possible.

I got this information from the GMTV website:

New Test To Access Risk Of Breast Cancer In Women

At the moment it is only possible to test a women\'s chances of getting breast cancer by comparing her genes to those of her mother or grandmother. Although this has helped to save many lives by letting women know early if they have a high chance of developing cancer, many women who believed they may have been in a high risk category were not able to take the test as they had no living relative to compare their genes with.

Faulty genes are often the cause of breast cancer and a new test that will soon be available that checks a women\'s genes for faults without having to compare them to those of her mother or grandmother. Thus women who have no living relatives will still be able to find out whether or not they are at a high risk of developing the disease. The test is likely to cost around £2000.00, with the price decreasing for any following family members who need it, as some of the initial gene identification work would not have to be carried out twice.

If women are found to have high risk genes their chances of getting breast cancer can be increased to up to 85%. Consequently it is important for these women to have regular mammograms and many request having their breasts removed before they even show any signs of having the disease.

I would certainly go to the genetics clinic you are with and ask if they will test you. Another alternative which someone else did is to see if the hospital kept any tissue samples, this could possibly be tested also. With your high risk status they should offer you a test anyway.

I am classed as high risk after mum was diagnosed aged 52 (three years ago now) and she lost 2 sisters to bc aged 46 & 49.
Mum has been tested for brca1 & 2 but has so far tested negative.

Best of luck, and please let me know if I can help with anything else
love
Justine
x

Member

Re: genetics testing question

genetics testing question Hi Everyone

I lost my mum to breast cancer when she was 37 after a 4 year battle, i was 8 years old at the time. As she was so young, i am classed as high risk and have been attending a family history clinic and have had 2 mamograms, but now the system had changed and i am no longer offered mamograms until i reach 40.

Now i am 34 (the age my mum was when she first found out she had cancer) I constantly worry, especially as i have 3 children. I am an only child and so was my mum, so i have no living relatives at all. My question is, is it possible for me to go for genetics testing even if i have no living relative? Is it possible to still test even if no one else in your family have had the test?

Thanks ladies, i am so glad i have found this site.

Marie

Member

genetics testing question

genetics testing question