I have just received my appointment at the above hospital and I wonder if anyone could tell me what I can expect with my first genetic appointment? I did ask if this was the main centre, as my cousin has been seen at the ‘Nightingale Center’ in Manchester. I ask the receptionist about this and he said that St Marys had a lot of satelite units but all the consultants went back to St Marys?
Can I also ask if anyone has been ER + 100% HER2 neg, and had one of the BRAC 1 & 2 genes?
My family history is that my mums distant cousin had BC in her 30’s, my maternal Aunt died of ovarian cancer when she was 70 and now both my cousin (her daughter) and me have had multi focal ER + BC. We have been told that the thread is kind of weak, but I have asked to be tested to just so that we know for sons and daughters in the family.
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I have a mutation of the BRCA 2 gene. I was tested after being diagnosed with er pos bc in 2004. My family history wasn’t particularly strong, maternal grandmother had bc at same age as me - 41, and my mum had ovarian cancer at 50. I was tested at Birmingham but my 3 siblings were tested at St Mary’s in Manchester as thats where they live. The first visit is to assess your risk. The geneticist will ask for your family history, any members who had cancer and at what age. Cancers they are interested in are breast, ovarian, pancreatic, prostate, bowel and melanoma. If they think you are high risk they will offer to take a blood sample for testing, you don’t have to make a decision there and then, you will have the option to absorb the information and go back for testing at a later date. I found the visit very informal, relaxed and unhurried. My geneticist didn’t seem to think I would test positive for a BRCA mutation but hey ho I did! The results took about 17 months to come through but I believe the process is a lot quicker now.
Good luck, hope this helps. xx
I was tested at the Preston outpost of St Marys along with my mum. I was diagnosed July 07 with bc that had actually spread to my bones and lymph nodes, was 100% ER+ & PR+ but HER came back at 1 which is classed as negative. I was 42 at the time. Mum was diagnosed with bc in June 02 but has no mets (age 67), her identical twin sister was diagnosed 20 yrs ago (55), their other sister just after me (75), their cousin was also diagnosed (about 70) and a young male cousin of mine died from some other form of cancer aged 39. He was on my mum’s side of the family.
We started the testing process in Oct 08, had bloods done in May 09 and have no results yet ( a summary of the appointment took 4 mths to arrive!). They said there is probably a genetic cancer link/gene but probably not the ones they have found so far - ie, brca1 & 2.
Not sure if this is any help but thought I would reply.
My mum and aunt both had bc and survived so for over 20 years I had an annual mammogram. 3 years ago I was asked to have genetic testing instead, did so, didn’t have the genes and was downgraded to ‘moderate’ risk ie the same as the whole population. They didn’t mammogram me and said they would call me in due course. I just had GP manual examinations.
Last year I found a deep 4.5 cm lump and it’s in 24 out of 25 lymph glands.
The chances of getting bc are raised, a doctor told me, if you have a family history - but it need not be the same bc as in your family history. No one told me that - they assured me I was just the same risk as the whole population. I so wish I’d gone on having mammograms.
i was tested in a research trial in 2006 when i first had cancer it was ER+ 7/8 and HER2 neg… the results came back negative.
i got retested in sept 09 after developing a new primary tumour this time negative for ER, PR and HER2.
both myself and my genetic nurse were expecting it still to be negative however the result came back in january as positive.
it could be that the research trial didnt test all the gene or used different methods to the health board lab.
my history was mum had ER+ BC at 57 and great grandmother had BC in 50s or 60s… grandmother had a hysterectomy and ovaries out at age 36 so we presumed this is why she didnt get the disease.
so mum went for predictive testing only to come back negative which was a shock for all the family so dad has now just been tested and should get results in a month.
jane i questioned this too as my sister who had been having annual checks had the predictive test which came back negative and has been taken off intensive screening so she now wont get a mammogram for 10 years as she is only 40… shes quite pleased not to be having checks but i was still worried about the fact that my risk isnt actually to do with family history but she may be at a slightly increased risk… but at the same time the other cancers occured over age 50 so more likely to be sporadic BC and just a coincidence.
Thank you everyone for your replies…this bc really sucks…even though I have lived along side it for the past 5 years this new suprise of my cousin being diagnosed with multi focal and in the last few days her sister finding a small lump really rocks the shaky foundation again! I have an appointment at St Marys in the next month and my feelings are that as a family we are very sensitive to oestrogen and as we all have had problems at aroud the 46 to 50 age mark I think that it is linked to the ovaries, (I have always felt that, so I had a oophrectomy shortly after my chem had finished)
My mother seems to be the only one (touching wood) that has missed it and she had an hysterectomy and one ovary removed when she was about 36 so I think that then her chances of getting it were reduced?
If I choose to have the other breast off does that reduce my risk of getting bc in the other breast, I thought that I have read somewhere that it doesn’t reduce it that much?
Hi to all you ladies out there
I considered double mastectomy in 2003 when I was first diagnosed, but took the doctors word for it that one mastecomy and tamoxifen for 5 years and then arimidex would be enough. I’ve just leanrt that my other breast has a cancer lump and I am waiting to see the doctor next week. I shall insiste on a mastecomy.
I shall be seeing the genetics dept in april so I don’t know where I am as genes are concerned.
My sister died when she was 40, leaving a 3 year old daughter who now at 16 wants to know her chances. That’s why I am being tested.
Hi Marial,
wishing you well for your hospital appointment. I had a mastectomy last feb and in two weeks having the other breast removed, I nearly cancelled due to nerves, but my risk of getting a new cancer in the other breast is high. My twin sister and younger sister both have cancer and my mum passed away last year from breast cancer. My two daughters have seen a genetic specialist with no test being done due to their age 25yrs and 22yrs. they have been told they won’t be checked until they are 30. i have been checked and no gene was found. good luck
penny your daughters wont need checked because you dont carry the gene so you cant pass it on to them… testing can be done from age 18 but only where they actually have the possiblity of inheriting a gene… my daughter has the opportunity to get tested since i am a carrier and she has just turned 19 but doesnt feel she is ready to be tested yet, some women dont want to be tested at all as they would rather not know.
but they can only test for a specific gene when they have identified one… have your sisters had genetic tests?
even though my mum and great gran had BC i didnt inherit my gene from her… so either it cam from my dad or i am the origin of the mutation.
maria what are they planning to do if your test comes back negative as its the direct family that passes it on or not… eg you could test positive but perhaps your sis would have been negative and therefor wouldnt have a gene to pass on (or vice versa)… as your neice is only 16 they wouldnt normally offer her testing until she is over 18 at least and its only usually offered as a predictive test to somebody who doesnt have cancer ie its already identified from somebody with cancer which gene it is so they can go and look at that gene directly… hope your genetics team can shed more light.