girls, my head is in a whirl. I have a friend who is considering a double mastectomy following genetic testing.
I have a sister, she is 34yrs and I am 37yrs. With genetics, how do we know that there isnt a gene link to my diagnosis ? Do I have to wait to see if my sister gets BC before they check any genes? No family history of it but how can they be sure that my sister is OK?
Havent looked into this before but my friend’s situation has got me worrying .
thanks
VEZ xx
Hi Vezza,
Am in similar situation, i have had bc twice and decided to have blood test done - it came back as braca1 positive, there aere 2 genes known at the mo… this is from my limited knowledge and may be a bit basic.
As i have gene i can now have double mastectomy and oophorectomy to reduce the any further breast cancer from 85% to about 10% thats according to my geneticist. Ive just turned 40. My sister is 33 and has a one year old baby… she has a 50/50 chance of having gene… she is going to see geneticist to see which route she wants to take.
Your onc can refer you to geneticist and they will go through the whole thing with you, you can also discuss your worries about your sister… at your pace, so you can make your choices… as i have seen my geneticist the procedure is then that my sister can contact them direct… but we do have a family history.
Ask your bc or onc consultant… dont sit and worry about it.
Best wishes
wendy
opps that got sent before i was ready… i meant dont sit alone and worry about it… there are lots of people to talk to…it does help x
Hi,
The only way to know if bc is caused by a genetic mutation is to give a blood sample which can be tested for a mutation of the BRCA 1 and BRCA 2 gene. As you’ve no family history its highly unlikely you will be offered testing. Only about 3-5% of all bc is genetic, if you’re concerned about your sister then advise her to see her GP and ask for a referral for breast screening.
Hi Vez
I have IDC and have just had the blood test for BRCA1&2. Scientists are on the verge?of discovering BRCA 3 but that’s irrelavant for now. I have a linear family history of breast cancer. My maternal grandmother, my mum and now me. I asked about genetic testing six years ago and because I had no surviving relative with breast cancer was not elligible for testing. They only test a person who has or has had BC. If they test negative then testing family member stops there. I was eligible for testing because of family history, diagnosis and my age. I was told it is done on a point scoring system. If I hadn’t been so young (35) then I may not have been allowed the test. Once I have my results, which can take up to 6 months, if positive then female relatives will be allowed the test if they choose.
There is a lot more involved than just BC here though, such as increased risk of ovarian and colon cancer if positive and many difficult desisions to be made for a lady who tests positive but has not yet developed (and may never do so) these terrible cancers.
Insist on a referal for genetic counselling and take it from there.
Take care
Carly x
Remember that having the gene does NOT mean that your family members/siblings will get cancer, even though you may have got it.
The cancer-linked genes which we know about and the ones we haven’t yet had described indicate that, in the event of a trigger factor setting off cancer initiation, the gene carrier is more likely to express cancer in their lives. But that doesn’t mean it will happen.
This is proven by the fact that studies of identical twins and non-identical twins show that identical twins who share 100% of their genes are no more likely to get cancer because their twin has it than if they were unidentical (no more genes shared than between any other siblings).
It is what triggers initiation and what fosters cancer promotion which leads to cancer proliferation. Both these early stages (initiation and promotion) can and often are interrupted. There may be thousands of individual genes involved in cancer development.
As Wendy points out, so far only 2 are described in relation to breast cancer. These genes can remain dormant all your life. If the gene remains dormant, it is not responsible for cancer. If the gene is expressed because of some kind of trigger event or series of event or factors, cancer may develop and if not interrupted in its development from one stage to the next by immune function supported by diet rf medecine or a combiantion of the two, then a tumour will result.
Having the genetic information is useful when treatments can be adapted to address particular genes to switch them off.
I read a very interesting report to-day which is about how to detect if cancer is busy before it becomes diagnosed as stage I, requiring surgery. Apparently an American and Italian team have discovered a group of 7 low molecular weigh ions, (these are the active forms of chemical elements) which can be detected in blood serum. They are clear markers (85.7 to 96.5%) accurate in distinguishing presence or absence of cancer.
This isn’t yet clinical practice but could be very soon. If I were your sister and were worried, before taking the dramatic step of prophylactic tamoxifen or mastectomy, with the loss of fertility etc. I would want this test. Just knowing it is coming soon should be reassuring. I shall have written to the authors and will post their reply here about how soon this may be available. I think this is a breakthrough. The comparative groups (total of both = 310 women) used was a group of women who were about to undergo surgery for stage 1 BC with confirmed diagnosis from biopsy and and another group matched for age etc. who had had 4 consecutive years of clear mammograms.
This is the the title of the abstract: Serum Proteomic Analysis Identifies a Highly Sensitive and Specific Discriminatory Pattern in Stage 1 Breast Cancer [Annals of Surgical Oncology] and this is the link: springerlink.com/content/l676j27236l00448/
Wishing you well and hoping that you don’t let what can be rather frightening genetic information push you to more treatment than you need. It’s a good time to investigate how to prevent cancer from developing and later progressing to stage I and beyond with your sibs. I recommend a book “The China Study” for the background science gathered over 40 years on dietary factors which trigger cancer. Author T. Colin Campbell, as well as Jane Plant’s books on breast and prostate cancer.
Jenny
Hi Vezza
In addition to the information your fellow forum users have given you, you may also find our factsheet called ‘Familial breast cancer’ helpful to read which you can do so via the following link:
breastcancercare.org.uk/docs/familial_breast_
cancer_updated_may_06_0.pdf
If you have further queries please feel free to contact our helpline on 0808 800 6000 Mon-fri 9am-5pm and Sat 9am-2pm, alternatively, you can also contact our specialist nurses via our ‘Ask the Nurse’ email service which you will find under the ‘Support for You’ tab at the top of this page.
Hope this helps.
Best wishes
Sam
Moderator
Breast Cancer Care
Hi Girls. finding this thread really informative as I don’t know much about the genetic side as haven’t really had to think about it before - but yesterday got my results back from latest surgery (mastectomy) and was told that is hormone negative whereas my first lump 4 years ago was highly er and pr positive. On speaking to cancerbacup person on phone they think I should be asked to be referred to genetics as having it at 34 then 38 and one being hormone negative there may be a genetic tendancy. They told me that it doesn’t have to be in the family and that the gene can start with me? Apparantly this is very rare but a possibility - anyone else know about this as news to me.
There is no breast or ovarian cancer in the family but my paternal grandmother died from very aggresive bowel cancer.
Carly - you mentioned colon cancer do you think this is the same?
Anyway seeing my onc next week anyway for routine check up after surgery so will ask to be referred. It isn’t really for me as one breast and ovaries already gone and will have other breast done next year. More worried for my younger sister who is 31 - would like her to have as much info and choices as possible.
Jenny thanks for that info on blood tests - just think it is good for everyone the more they discover about this B****Y disease.
Thanks
Sarah x x x
Hi, Sarah. Sorry to hear your tale: I have 2 questions you may like to ask the onc.:
I suspect that my tumour 11 years ago was ER/PR receptor positive as I had a good response to tamoxifen (took it 5 years, with no RT or chemo and recurrence occurred after 6.5 years) But the tumours at that recurrence were ER -ve and only very slightly PR +ve. As I understand it this represents a progression in staging. At the recurrence it was described as III/III and I had more lymph nodes involved. Although there has been some breast and colon and prostate cancer in my family, I put this down to shared environment, diet, lifestyle which triggered the cancer development and fostered its promotion and proliferation. (Yes, all 3 seem to have the same risk factors in their development, but don’t know if a genetic link has been discovered.) I am the youngest to have had it. But I was already 46 when I had the primary diagnosed. It is also possible for tumours to progress from HER-2 negative to HER-2 positive.
Wishing you well,
Jenny
Hi Jenny, thanks for getting back to me. Yes I did have my ovaries removed to try and prevent breast cancer returning. I know that my new cancer is def a new primary - it is actuallyhigh grade DCIS and thank goodness when results came back yesterday there was no invasive involvement at all. It was 5cm though which slightly scared me.
I totally agree with your comment on other factors in our lives - both times before diagnosis I have had really stressful years leading up to diagnosis and I do believe this is a contributory factor despite any medical evidence to back it up. I am really looking at how to de stress my life now i.e. change job etc.
Anyway back to the point of genetics I will put all these questions to my onc next week and see what she thinks. For me though genetic or not I feel my other breast has to go - not giving it a third chance.
There are more and more women and lots of them younger being diagnosed now (I know some is due to better screening) but I feel there must be something in today’s lifestyle which is making this happen.
Sarah x x x
Hello
im new to this particular forum and just wondered if anyone could give me information.im going to see my genetic perp tomorrow because im considering a double mastectomy as bc is HUGE in my family, my mum being the last to die from this dreadful disease, she was only 55, her first diagnosis was in her early thirties.i have no surviving female members apart from my daughter.Ive been told that i cannot have the blood test as i have no one living is this true? but still they say my chances of contracting bc are betweeen 50 and 85% .im confused …help!
Sharon
Hi Sharon
I am sorry to read of the worry you have in your family due to breast cancer, I have posted this earlier in the thread but it may provide you with the information you need, we have published a factsheet called ‘Familial breast cancer’ which you can read via the following link:
breastcancercare.org.uk/docs/familial_breast_cancer_updated_may_06_0.pdf
If you have further questions or concerns do contact our helpline on 0808 800 6000 Mon-fri 9am-5pm and Sat 9am-2pm, alternatively, you can also contact our specialist nurses via our ‘Ask the Nurse’ email service which you will find under the ‘Support for You’ tab at the top of this page.
Hope this helps a little.
Best wishes
Sam
Moderator
Breast Cancer Care
Hi
I have recently gone through preventative surgery, it has been 5wks since i had a double mastectomy. I tested positive for the BRACA1 gene, so decided prevention is better than cure in my case.
My mum had breast cancer at 32, and had ovarian cancer at 48… Sadly we lost her 2yrs ago. Her mum had BC in late 30’s and died of it. My aunts had ovarian cancer and had her blood tested. Due to her having her blood tested, we as a family are able to have the test done.
I were told unless there is a significant risk i couldn’t have test done, that was 6yrs ago. also due to my age they were unsure(I am 29yrs old now).
When they test the gene, the simplest way i could put it as they said… It is like looking for a spelling mistake in a dictionary, and can take quite some time. Once they have that result they can match up your bloods with the BC survivor in your family.
Not sure if that helps people who have not had test and want it done.
Tracey
Hi Sarah
Sorry not replied sooner… I’m in a little chemo world of my own at the moment!!!
Yep, colon cancer and bowel cancer are the same. Suppose the only difference is the term ‘bowel cancer’ is more generalised and can affect any part of the intestine, small and large (I think).
It is a scary thought, but I suppose it is better to know and be screened than totally unaware.
Carly x
hi, in response to sarah 35 ( They told me that it doesn’t have to be in the family and that the gene can start with me? Apparantly this is very rare but a possibility - anyone else know about this as news to me )
thats the exact position i am in now, i had bc at 38 and 43 with no other relatives dx, i went onto a research programme purley because of my age and two dx.
my parents have both been tested and come back negative so the answer is yes it does have to start somewhere and worth getting gene tested.
my sister and daughter are now being tested and will receive their results on 20th dec so i am just keeping everything crossed for a neg result for them both !!
as you say it is rare and my geneticist has asked if she can write a case paper as they have no case studies with such results.
dawn x