please explain outcome of genetic testing
please explain outcome of genetic testing Hi
I know someone will be able to give me a clear explaination. I was diagnisos with a grade 3 invasive ductal CA in August 06 at 45 years o;d. Receptive to Heceptin only. My maternal grandmother died of breast CA in her late 70’s and one of my maternal aunts was disgnisos with a small hormone recptive tumour at 80 years. Because I have two daughters I was keen to have genetic advise. Both my surgeon and oncologist said very unlikely to be genetic but were happy to refer me. I was seen a couple of weeks ago and after completing the family tree, no other breast CA and I come from a large extended Irish family. The counsellor said she would score my family history. She said I needed at least a score of 17 to warren a blood test and I only scored 11. I came away quite happy with the outcome. However today I received a letter to say that she had discussed my case with the consultant who feels that it may be inherited and they are now going to offer me screening. I am completely confused and I am now very worries about the implication if I do test positive. Can any one out there give me some more info on the subject.
Thanks for any advise
Geraldine
Dear Geraldine
You may find the following factsheet helpful to read, you can read or download it via the following link:
breastcancercare.org.uk/docs/familial_breast_
cancer_updated_may_06_0.pdf
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Hi Geraldine Not sure I can help a lot but I asked for referral for genetic counselling because my mat, grandmother died from ovarian cancer at 66. She was 1 of 9 (large Irish family!) & 2 of her sisters were thought to have died in their 30’s from “reproductive cancers”.
I had no problem getting the referral and counsellor thought history was sufficiently strong enough to offer testing.Typical of me I dug a little hole in the sand and put my head back in it.I didn’t want to make a decision about possible bilateral mastectomy -especially if metastatic BC was going to get me anyway. However, I did ask for prophylatic BSO& hysterectomy -which I had done laproscopically about 8 weeks after referral.I’m now revisiting the question about whether I should go ahead with testing. My gynae oncologist agrees that the only advantage of knowing is because I have a daughter (and a son come to that -who could also carry a genetic fault),but I’m not convinced I could live with the knowlege , or worry about whether I might of benefited from a different chemo regime. There seemed to be no “point system” to obtain referrals/tests/prophylatic treatment-so I guess this another post code lottery senario!
If you have any thoughts/suggestions-would love to hear them.
Cherry
Hi Cherryred
I do see where you are coming from and the horrible decisions/choices if you find that you do have the mutation. I spoke to the counsellor today and they said that my family history is not a typical one but because I have an aunt who had CA of the pancreas as well, there is a slight chance that it could be to do with BRA2 gene. So I have decided to go ahaed with the test. They have said I am borderline but I have two daughters, two nieces and loads of female cousins so I feel for everyone’s sake I should be screen. Also I am so nosey, I want the answer to everything. I will let you know what happens.
Love Geraldine
P.S What part of Ireland are your family from, mine are from County Tipp.
Hi Geraldine. How are you getting on at work ( I did post on the "newly diagnosed "forum , but had been to Ireland for the week , so think the post may be buried a couple of pages down now)-not too tired?
Did the counsellor give you any idea how long the results would take to come through?-that was the other thing that was making me weak kneed about having testing.I’m nosey too but also a big scaredy-cat and once you’ve asked the question there’s no taking the answer back, so it has taken me a long time to gradually assimilate pieces of info. when I feel I’ve been able to deal with it.
I have an Irish mother and was born in Co.Down though we left Ireland when I was 3 months old. During the summer hols, my sister & I were packed off to my G’mother’s for the entire holidays-I have some very happy childhood memories.Visited Ireland last week with my mum -cloudless skies, warm and sunny for the entire week -unheard of in ireland!!
Cherry x
Hi
Work is going fine, I am just back two days a week to start. Did a baby cline last Thursday which was lovely. I had forgotten how much I miss them.
In terms of the blood test, I am under GOS genetic and they said it would take 4 months. But they only test 60% of the gene, I assume to do with costing. So now I just have to wait for an appointment for the blood test.
So are you on hormone treatment?, I have done 6 Heceptins so another 12 to go. Have got crap reflux at the moment, don’t know if the Heceptin has kicked it back as had it really bad during chemo or if it is the fragmin. I developed a DVT half through chemo so on fragmin for 6 months. Looks like more pill popping for me. So what chemo did you have? do you mind me asking what you meant about a different type of chemo if your BC was genetic (see what I mean about being nosey!)
Love Geraldine
IRISH CONNECTION!! I am the daughter of an irish mother too! My maternal grandmother died of breast cancer aged 45 when my Mum was 7yrs old - she just knew ‘cancer’.
My Mum was diagnosed aged 65, when she queried likely hood of hereditary chance was told as she was post menopausal it was most unlikely.
My sister was diagnosed in July 2000-aged 42 , and me November 2000 aged 40. Being the youngest surviving member I was DNA tested. The NHS did not find anything, but I was asked if i would let Cancer research have copies of my DNA, and they found BRCA2 gene.
Younger sister now 40 herself, and has declined testing so far, just had a baby at the end of last year.
I now have secondaries, and am having chemo at present.
I had a check up with dentist, and got talking to the dental nurse, she comes from a large Irish family with breast cancer in several members, her younger sister who has had breast cancer will not agree to dna testing, so no other family member is offered testing. some family still in Ireland too to add complicatins!
Is it all the red meat eaten in Ireland , or milk drunck, or inbreeding. OR are we all just cliutching at straws??!!
hi Geraldine & bmrt67890 _ I’d just written a lovely long reply -went to answer the door and returned to find my screen blank-rats, so here i go again.
Maybe we should start an “irish” club/forum ha ha. I tend to agree about irish women seeming to have dodgy genetic material since I also know an awful who have /had BC.and yes, when I spent my long summer hols in Ireland, I was fed good irish beef, bacon, sausages and lashings of creamy milk and butter!
I also think the geneticists/ONC’s fob us off with "it’s post meno. so not likely to be hereditary.I know age at which you develop it does play a part, but i think you have to look at numbers and patterns too (that’s not evidence based, just my opinion).
Geraldine - I don’t really know what i meant by different chemo but I read an article by an ONC who (I think) was suggesting that because of the molecular make up of genetic BC -it might respond better to a different chemo -a taxane I think it was-but it might have been a platinum based one as used in ovarian cancer. The thing about this site is there will be others who will have the info I’m sure. I believe most node positive women are given a taxane these days now anyway. Unfortunately for me, that wasn’t standard when I was treated and I had 8 cycles FEC as part of the TACT1 trial (other arm was FEC4 + taxotere 4) .
I didnt have tamoxifen post chemo as ONC assumed chemo had put me into menopause so was started on Arimidex.
bmrt- hope your’re doing ok with treatment -what chemo regime are you on now?
Cherry
Hi Cherry I am having Taxotere, and zolodronic acid every 3 wksmetimes. I have had 3 now, and have a scan in 2 wks to see what is happening!
Was it you who was a Pall care nurse too?? I am/was a District Nurse, and sometimes feel too much knowledge does not always help!
B
Hi B I was a district nurse in the dim and distant past but now am a practising health visitor. I agree with the knowledge bit -personally I think ignorance is bliss! I’m on an oral bisphosphonate - alendronic acid. Is this the first time you’ve had a taxane? -I would have preferred to have had a taxane.Did you have tamoxifen or similar? Sorry if I seem to be prying-I’m just interested in different therapies,still haven’t quite worked out why some women are offered one sort of chemo against another -unless it’s down to onc preference.
Cherry
Hi Cherryred and B
Weird that we are all nurses and of Irish descent. I think it must be all the potatoes!!!1
For B
Hope the chemo is going OK. I had taxotere, hard stuff but gets great results at stopping the little buggers. How are you feeling? What sort of side effects are you getting? I agreed ignorance is bliss and I wish I did not have this urge all the time to find out more. You take care and let us know how you are getting on. Will be thinking of you.
For Cherryred
I see what you mean about which chemo. You must have had FEC. I was due to have 6 lots and on the day I started chemo 27/9/06 the NICE guidelines were changed for women with node positive primary BC to 3 FEC and 3 Taxotere. Up until then it had been for secondary and for trials of primary. I think from my readings the chemo choice has a lot to do with if your tumour is receptive or triple negative also if you are pre or post menopausal. I think the guidelines from NICE are clear about which chemo is given in each situation. There is a really good web site American breastcancer.org which has all the lastest research findings. Hope work is going OK. I can’t believe I have been back two weeks already.
Love Geraldine
Hi I have been busy with chemo and neutropenia over the last few days and weeks and months! I only have one more chemo hopefully - 6 taxotere. It has taken it’s toll and had neupogen injections after last chemo, and managed to srtay out of hospital! First scan very encouraging, so hope second will be too!
Yes Cherry if is the first time I have had Tax. originally I had CMF and then something else which escapes me!! but not FEC that started just after I finished my chemo. I took Tamoxifen for about 2 yrs, and then when discovered I was BRCA2 swopped to arimidex. Bone scans said i had bones of a teenager (!) so did not need biophos.