Has anybody found out that they cant find a gene?

Hi,

I have a massive family history of breast cancer, myself dx @ 22, mum 26, nan 40 (maternal), gran 45 (paternal), great gran 25, aunt 48 (paternal).

I have had my blood taken about 7 months ago, ( i am the only one to survive it so far) my sister went to st marys to discuss surgery about 2 weeks ago just ibncase she has the gene and they said they have not found anything in my blood yet!!!

It is completely obvious that i have a gene, i really really want to know which one i have for my kids sake, incase i have more and also my future health.

I am really quite worried that they wont find anything.

Has anyone else had this sort of problem and if so how did they get round not knowing what gene you had?? Is there anything else that i can do if i dont know?

Thanks,

Emily

Hi Mairead,
That all sounds terrible and must be a huge worry, have you already been tested for bc genes, i first was dx at 30 then at 46 and i was tested although i didn,t have any family history. Fortunately i didn,t have the gene and was just unlucky, but it was a worry as i have a son and daughter and was worried for them.You must be really worried.
When i was tested it took about 7mnths for them to contact me to say they hadn’t found the brc1 gene but there were other genes that could be responsible but it took a lot longer to find them, they said they would write to me at a later date with more information.
The study of my genes are being done in Sussex.
Mabe other people on this site could help you a bit more as i’m not that knowledgable about this side of it, but i would still talk about it with your doc or onc, someone must be able to help you with your questions.
Good Luck
Renee xx

Hi Emily
I do have the Brca2 gene - so in some respects I was lucky and could take action accordingly.
But the testing in our family -even to find a BRCA gene - took a long time. My sister was the first to be tested, and after almost a year they came back and reported that no gene had been found - It was only another 6 months after that that we were told she had the BRCA2 gene, and so our parents and myself could be tested.
So, despite your long wait so far, because they havent found a gene quickly doesnt mean they wont find one of the common genes.
And if they dont find a common gene, I know of many women who are considered and treated as high risk even though no gene has been reported - this is based on family history and/or the belief that they have a genetic mutation which hasnt been discovered yet.
I would recommend that both you and your sister A) await the test results; B) if they show nothing - persue the genetics service at your hosp for all the help and advice they can offer.
best wishes
Jane

Hi…I (now) have a strong family history…which I didn’t have before my diagnosis in 2003. I’m not a BRCA 1 or 2 carrier but because of our family history my sister is having early yearly mammograms and has had an oopherectomy and my daughter has been invited to contact our nearest genetics centre when she’s in her early 30’s. Take Care…x

I am BRCA1 positive and it took my mum 2 years to find out her gene results and then another year to find out mine.

I know that high risk are treated the same as BRCA+ and you are entitled to the same level of surveillance and options. It may be you have another BRCA mutation that they have not yet found. BRCA1 was first discovered and then BRCA2 but they have found BRCA2, BRCA3 and BRCA4 but not sure about the details of these.

IF you are high risk and would like to talk to others who are…you are welcome to join our support and social network BRCA Umbrella brcaumbrella.ning.com.

Plenty of people to chat to online with 147 members and members all over the world.

Hope you are doing okay?
Leigh-ann
x

Hi everyone, have been reading your posts and you have answered some of my questions. I am waiting on results from genetic tests and i was wondering what would happen if the common mutations are not found. I was diagnosed last year age 40 and my sister was diagnosed age 38. Our aunt died from BC and i think she also had ovarian cancer. The waiting on the results is awful, but even if it comes back negative i think i will still worry in case i have some other genetic fault not yet discovered
thanks for letting me rant x

For those of us who do know about their gene - I guess we are lucky. High risk is treated the same if you have a significant history, it just makes the choices ahead more difficult because you don’t actually know if you are at risk too. Its a double edged sword and I am sorry to worry you. I would speak to your genetic counsellor extensively about this and the screening. You have to push the screening really hard for MRI.

I just enquired at my screening clinic and even though I have had preventative surgery, they will still screen me yearly with mammograms and MRI because I am BRCA1.

Waiting for results is difficult but I made up my mind well before I knew so that I would be prepared. I didn’t ever really think I was going to be without the gene even though it is a 50/50 chance, I was sure.

Hang in there : )

Hi Emily, I don’t have such a strong history as you but a hisory nevertheless and recently tested neg for BRCA1 and 2. I went to St Mary’s too in London (where I was treate as well) and the genetics counsellor basically said that even though I teste dnegative, they really don’t know how many other genes there might be out there that have not been discovered. It’s all a bit confusing really.

Hi Leigh -Anne and Cassie, i finally got my results after waiting since last August. I was part of a study looking for the BRCA 3 gene and they also tested for the BRCA 1 and 2 genes I have been told i do not have any mutation, i am relieved but i do wonder how this affects my sister, she had BC at age 38 and i was 40 when diagnosed. Could it be that i have not inherited the gene but she may have or is it purely sporadic the cancer that we both have had , any thoughts?
thanks

Hi all

You might find the BCC booklet ‘breast cancer in families’ useful to read. It contains information about breast cancer in families and explains the three main risk factors for breast cancer, what is meant by a significant family history of the disease, and what to do if you think this may apply to you or to members of your family.

This booklet should provide you with some of the answers to your questions and will help you to find further sources of information and support if you need them.

To find the booklet follow the link below:-

breastcancercare.org.uk/upload/pdf/BC_in_families_LP_-_March_08.pdf

I hope you find this helpful.

Kind regards
Sam (BCC Facilitator)

Hi All

I have a very strong family history of breast cancer on both sides of the family. I was 32 when I was diagnosed in June 2006, it took a year to get my genetic results and amazingly they were negative. All of my relatives diagnosed with this have died from BC and some of the others had secondaries in other areas following BC. I am the youngest to be diagnosed and it does scare me. Even though I do not have the genes, the genetics consultant is hoping that I can have breat MRI done as a regular screening tool. Is this something you are all aware of? Have any of you been offered this?

Take care and love to all

Claire xx

hi im jude im 35 and a brca1 carrier which i found out nearly 2years ago now and had a keyhole oopherectomy last year as a preventive
my great gran had breast cancer my nan died at 30 with ovarian and my mum died at 45 with ovarian and my sister had breast at 28 an aggresive one so had mesectomy and hysterectomy
i knew i had the gene before the results it was obvious
goodluck jude
offered a double masectomy and recon and seriously considering that

Amazingly my results came back negative as well , me ,and my two aunts have had breast cancer and my dad prostate …it’s such a relief … but the question still is , why we all got cancer …
xx

Hi Englishrose,

In a strange way, im thankful that you have just posted that as you are also really young and have a big family history. Also it looks like you didnt have to have chemo, also like me! Have the genetic people said that you may need any other screening or is that it for you now?

Emilyxx

hi all,

I am considered as high risk as my mum was diagnosed aged 54, but lost two sisters in their 40’s to bc. We also have bowel cancer in the family.

Mum was tested for the the brca genes but so far nothing has been found.
I am due to start screening next year when i’m 35, five years younger then when my aunt was diagnosed at 40.

Even though a gene might not show up, if your family history presents that their may be a gene, they will still keep a close eye on you

hope that helps
:slight_smile: