Genetic testing results - what happens next ?

Hi there,
don’t know if anyone can help, I have tried to phone BC nurse but got answer machine…

I have just got in from work and found my letter from the local Genetics dept., it says they have not found any changes of definite significane, BUT they have a change in the BRACA 1 gene and they do not know if this is related to the breast cancer that seems to be running through our family (mum, aunt, cousin & me with breast cancer, aunt & uncle with stomach cancer & cousin with prostate cancer - and grandma with womb/cervical cancer died 1949). It has come up with an “unknown variant” ie nobody knows if it causes breast cancer or not. I understand that this does not mean there isn’t a genetic tendency in my family - maybe just one they have not found yet.

What I really wanted to know, is what happens next???, there is no mention of a follow up appointment with genetics to discuss what they have found/not found or if they want to test my sisters/daughters.

They have said a group in london is carrying out some research to look for other breast cancer genes and I have just phoned up for an information pack - I am more than happy to help in any testing to help anyone with this dreadful disease.

I feel really lost at the mo, so any help/advice would be greatful
Tracey xxx

Hi Tracey,

I think the exact procedure can vary from one genetics service to another but I was told that I would get an appointment to discuss the results. I was actually given the choice of whether to receive the result at an appointment or by letter with a follow-up appointment and I chose to have it by letter. That was so that I had time to take it in and think up what questions I wanted to ask.

In my case the report said that no pathogenic mutations were detected. I had been told that common variants that weren’t significant wouldn’t be recorded but that any which might be significant would and that these are reviewed from time to time as more information becomes available. The covering letter from the genetics service with the results letter mentioned the study - probably the same one they told you about. I too am enrolled in that.

When I had my appointment to discuss the result, I asked what would happen if another BRCA gene was found and was told that if it happens in the near future they will get in touch and ask if I want to be tested for that. If it is a very long time I may have to request a re-referral. It was quite a long appointment as she discussed with me all the possibilities and implications - and I had a list of questions. I was also told that if I have any more questions over the next year or so I can phone my genetic counsellor.

As a general rule they will only test someone who has actually had breast cancer, but I don’t know if that is equally true where there is an unknown variant.

Can you phone your genetics service and ask what will happen next and when you will get an appointment to discuss the results? Your bcn may also be a help as she will probably know what is the practice in your area.

Feel free to send me a pm if you want any further info.

Eliza xx

Eliza,
Thanks for your reply, I was a bit lost when I got that letter - I guess I just wanted to know one way or the other
Iam almost at the end of my rads, and have a clinic appointment on monday morning, will ask to see consultant. I tried to ring my bcn but her mobile battery was kaput and kept cutting out, she promised to get back to me shortly, bless her, she is a bit dippy so might forget.

I guess my sisters will be put on yearly mamograms to monitor them as they are considered high risk now with our family history.

They didn’t want to test my mum, aunt or cousin when they tested me, I guess I won’t know any more till I talk to the professionals.

Once again thank you for your reply

Tracey xx

hi Tracey

ladies who are diagnosed with UV BRCA mutation at my clinic are treated the same as those where no mutation is found… ie the risk doesnt change so you are obviously from a high risk family and therefore would still be eligible for early screening.

because you have been affected by BC and there another 3 members of the family your sisters and daughters would be entitled to increased screened… here this normally starts 5 years younger than the youngest affected member or from 35.

thsi is currently annual clinical exam and the 2 yearly mammos between 30-40, annual between 40 and 50… if your family is high risk rather than moderate risk which sounds probable then we would continue screening at risk family members 18 mthly between 50 and 70.

you should be monitored annually by your breast unit usually for 10 years or to age 50 if you will be younger than that in 10 years.

sometimes when an unknown variant is returned they will offer to do predictive testing on other affected family members to see if they also carry it to see if it appears to be pathological in your family… some genetic centres are not so keen to carry out this testing but you could ask to see the geneticist who may be more willing to carry this out.

sometimes the scientific side has more interest in these type of things than the medical side… also some UV continue to be investigated and come back a few years later that its deleterious after all.

Lx

hello
I was diagnosed with two primary invasive ductal cancer [special type tubular] due to this and my age[46] I have started going through the genetic counselling. they have advised me that they dont think I am a BRCA but that due to the two incidents in 1 breast my teenage daughters and sister are at moderate risk[my grandada had liver cancer and there may be alink]. more worryingly they are looking at my husbands line as his mum died of pancreatic cancer after having breast cancer two years previously. Her sister also died of breast cancer at the age of 36.
I am trying to deal with my cancer but feel devastated for my two daughters. what are your thoughts ?

hi enaid

from your own family history i would say it doesnt sound particularly genetic… we wouldnt offer testing for somebody with 2 cancers it would make your family at a moderately increased risk because of your age but if both tumours were in the same breast this we wouldnt offer more screening we just classify it as multifocal disease. and your family would get the normal screening

however based on your daughters having 1 second degree relative through an unaffected male (their father) who got BC under age 40 thsi would mean they would be entitled to early screening from around 35-40.

my daughter and son have a 50% chance of inheriting my gene mutation and if they have it then they have a much higher chance of developing cancer so i do know how you feel about the worry of your children.

but i would make sure they are breast aware and if they have any concerns get it checked out.

Love Lulu x

ps i just re-read your post and realise it was his mums sis who had BC so your girls wouldnt get increased screening based on this.

BTW tubular cancer is a very slow growing type and more usual is of low garde with no node involvement and rare to get recurrence… it is also less common in genetic mutations… so means your cancer is unlikely to be caused by a faulty gene.

Lxx

thankyou so much for this LulU
my head feels like a shed at the moment .I feel very lucky to have to two tubular invasive cancers- I know others arent so lucky.
they have recommended early screening now for the girls due to moderate risk on my side and we are still being looked at for BRCA 2 on hubby side as his mum had pancreas and breast and two other sisters had breast [mind it was in a family of 9 siblings]
this forum is so good for others helping you to sort your head out as you have such big gaps between talking to the oncology team
once again many thanks
xxxxxxxxxxxxxxx

hi enaid

i think with 3 breast cancers on your husbands side of the family early screening for your daughters is quite a wise idea… obviously making sure they are breast aware and act on any changes they note in their breasts… and dont play down your diagnosis as i think you would feel luckier if you never had cancer at all… you still have had a diagnosis and no matter how good or bad your prognosis is its still a huge shock to they system, not just getting through the treatment but also the emotional effects including the worries you have for your girls.

take care
love Lulu xx

hi Lulu
just finished radio as one tumour was42mm and the other 28mm [there was an 0.88mm which they have down graded to two only]in right breast.
My oncologist said it is very rare that the tubular type grow this big as they are slow and normally caught insitu . I was also told one may have been there up to two years and the other less.
your right I dont feel lucky but I do when I read other stories -chemo which I have escaped.
Our girls have been breast aware snce their Nan got breast cancer and it was my eldest that pushed me to the gp as I didnt have a lump etc -just a change in texture [like a elastic band on the top of my breast]
being more aware in the future will help them I feel for sure -thats all we can hope for.My youngest turned 15 today another milestone in a long line of celebrations for the future
as for me hoping for Diepp recon as soon as plastics will take me -still glowing at present so dont think it will be anytime soon
take care
Diane xx

Hi Diane

i think your consultant was being on the generous side… if the tumours were both tubular they could have been there for over 10 years… tubular is very slow growing and must have been there a long time to grow to over 40mm… we recently had a lady with a tubular cancer who hadnt attended for 12 years and was very faintly there and it was only about 15mm.

good luck with the diep.

Lulu x

hi LuLu
feel shocked that they could have been there for 10 years which would make me 36 when they started. finding it hard to get good information on tubular- concerned that I didnt detect it earlier also concerned that both were tubular which is incredibly rare-how did it happen twice to me in the same breast -any thoughts ?
DX

hi diane

having two tumours the same in the same breast wouldnt be cinsidered two cancers per se… i dont know your details but the breast is made up of segments so if you picture the breast something like an orange but with bigger segments… multifocal disease is where 2 or more tumours appear within one of these segments… because that segment is faulty rather than the whole breast being faulty.

its much more normal for multifocal tumours to be the same histological type… and although tubular is a rare type of breast cancer its about the 3rd most common after ductal and lobular.

but often ductal and lobular tumours may have tubular features too these are really what it looks like under the microscope… so i think really its better to think of the positives of it.

as for the length of time it may have been there… i asked my consultant how long my 2cm grade 3 TNBC had been there cos id had a mammo 11 months before with no sign of it following my 1.5cm grade 1 tumour… my consultant said my grade 3 had probably only been there a few months while my grade 1 had probably been there a number of years.

you also have to remember when a cancer starts its microscopic and undetectable to the naked eye and also on mammos etc… we can only find it when it get big enough to see or feel… cells split and double every few weeks… 1 cell doubling 2 cells wouldnt be detectable but when it gets to millions of cells eg 1 million cells doubling to 2 million cells that its big enough to feel.

my consultant describe it as evolution… although the earth existed for billions of years… the only bit we are interested is the last few thousand years since humans have been around.

Lulu xx

thanks Lulu
that explains a lot . My Consultant said at the time that I had two seperate episodes but I didnt ask if they were in the same segment-but that makes sense.sometimes you feel like asking to have mamograms all the time just to catch them - not reasonable I know.
on a positive note I attended the plastics recon group last night and the women ther were inspirational and I am trying to think of this as it feels like moving on
thankyou for answering all my questions -I am very greatful
take care
Dx