BRCA gene testing

[Sparklepuff]

Leesa, I’m keen to chat to you about this. The more I’ve found out about genes the more I think a big campaign is in order. Hayley

[Sparklepuff]

Hi has anyone mentioned CDKN2a? Catchy gene! Rarer than BRCA. I have this mutation. It’s a melanoma gene but can predispose you to other cancers. Message me if you want to know more as not well understood outside melanoma circles. Hayley

[liggo82]

1st of March is ovarian cancer awareness month and I really would like another push at the petition, so please if you have shared, please do again just in case your family or friends didn’t see your original post and please, please do sign if you haven’t already.

So let's use the power of social media again!

The more I have looked into this the more I am amazed how BRCA gene testing is not available on the NHS and how difficult it is to have the test done. As ovarian and breast cancer kills nearly 19,000 people a year combined.

Even if you have the BRCA gene, your family have to go through hoops to try and have the test done even though you have a 50% change of passing the gene on and only 1/3 are not being offered the test. Research also shows that nearly 50% of BRCA mutation may not have family history.

If this was easier for people to have a choice of having the test and you found out you are positive for the gene, you then can advise your family and possible save lives of others which must save the NHS thousands of pounds.

For ovarian cancer, stage 1 treatment costs £5,328, whereas stage 4 treatment costs £15,081 per patient – this cost could be reduced dramatically if BRCA testing was available.

I understand that there is more to it than just a blood test and there will be the emotional aspect of it all but surely living a life and not having the worry about developing these diseases would make it all worthwhile.

So fingers crossed thing can change and make a difference. Thanks x 🐞

Please sign and share! x

https://petition.parliament.uk/petitions/209904

[Karenhil]

I was diagnosed with triple negative breast cancer last May then was sent for a genetic test which came back positive for the BRCA1 gene mutation ( I had no known family history but my Dad has also since been tested  positive for the BRCA1 gene mutation) ) Have since had chemo, double mastectomy, reconstruction, lymph node removal, radiotherapy and about to have my ovaries out. Does anyone know what the chances of cancer coming back elsewhere are, if you have the gene and have had a double mastectomy and ovaries out?(oophorectomy) Also, what symptoms to look out for if cancer did come back somewhere else? Thanks so much

[sandy_45]

Hi there, I wadh dxd with bc when I was 45 just like my mum, Nan and 2 great aunts before me.
I was tested a few years for brca1 and was negative, great I thought! But that didn't last long.
To cut a really long story short I had a WLE and full nodel removal followed by 6 cycles of chemotherapy and 20 radiotherapy.
I had the brca 2 test and was positive, I then decided to have a bilateral risk reducing mx, nipples included and also had expandets fitted and at a later date had 2 surgeries for ovary removal and 2 for reconstruction.
It is the best decision I could have made, next month I am having nipples and ateola tattooing to finish of the appearance.
I hope all goes well for you, bless ya

[Guest user]

I think if I'm offered I will opt for the mastectomy. At 35 and a single mum I don't want to live with the fear. I have been speaking to the genetics team at the hospital nearby and on hearing my family history they said uf not BRCA its likely to be some other gene not recognised yet.
L x

[roxygirl]

Hi

I have just been seen by the genetics team as I was diagnosed with Invasive Cancer in left breast and DCIS in the right breast at the same time at age 49. This counts as bilateral cancer and according to the scoring system they used means I have a 10% chance of having a BRCA 1 or 2 mutation. I also have a grandmother who died aged 60 from ovarian cancer which I understand increases the risk to over 30% and they have agreed to test me for BRCA  gene mutation.

They removed the invasive cancer in one procedure this was 33mm but I have had 4 wide local exicisions to remove the DCIS which is now > 40mm. I was initially advised to have a mastectomy by the team following the 3rd excision then my consultant said he thought he could save the breast so I agreed to let him have another go as it were and I had the op two weeks ago. It is now six months since my original diagnosis and I have had no further treatment for the invasive cancer and I have to admit I am getting a little bit anxious about this but will be going back to see the consultant Friday and hopefully referred onto see the oncologist.

All in all it is a very anxious time. I was told by the genetics team that even if the test is negative it doesn't mean there is not a genetic cause it is just that they haven't identified that gene yet and that I will remain high risk with recommendations made about future screening for myself and my children. So I guess it is not a definitive answer but if it positive then I can make sure that I make the right decisions for me for the future.

Sharon

[Jo_BCC]

Hi Leesa

I have put for you below the link to BCC's publication 'Breast cancer in families' and hope you find it helpful.

http://www2.breastcancercare.org.uk/publications/worried-about-breast-cancer/breast-cancer-families-...

Take care

Jo, Moderator

[Lulu34]

Hi leesa

Its hard to assess on paper if your at a high enough risk to warrant testing but i would say you def would be eligible to be referred.... Your sister with malig melanoma wouldnt be counted as an associated cancer as MM is fairly common in its own right, however if your aunt is on your dads side and your cousin is her daughter then you may well fit he criteria for testing.

Basically the rules of genetics are that the cancers all occur on the same side of the family and that each person is a first degree relative of at least ine other affected person.... First degree rels are sister, daughter, mother.... However if it goes through your father then it would be second degree relatives.... Aunt and grand mother.

If your family history is on your mums side and she is fit and well the chance if it being genetic is much lower as it would be usual in genetic families for the mother to be affected as well at a young age.

Now some people make silly assumptions even medics and genetics staff about what type of cancer is relevant.... All breast cancer is relevant including Her2+ and ER+..... Although Her2+ BCs are rare in genetic families they do still occur and although 80% of BRCA 1 are TNBC 20% are not.... And with BRCA2 only 20% are TNBC and the other 80% is not.

But because of the high rate of TNBC in BRCA1 they will normally offer gene testing for somebody with TNBC under the age 40.... TNBC is cancer that is negative for the hormone receptor for oestrogen and progesterone and also negative for her2 receptors.

Im presuming the are doing the Breast MRI as the cancer doesnt look very suspicious on mammo and that the MRI will give more detail this is particularly helpful when you are young as younger women have denser breasts so changes are more difficult to pick up.... But also some types of cancer dont show up so well on mammo so if your cancer is lobular they do sometimes check on mri.

The calcium can be something that occurs frequently in the breast and is of no concern but some types of calcium appear in areas of DCIS (pre invasive cancer) it doesnt make your diagnosis any better or worse... But if its only DCIS then it means you are less likely to need chemo, whereas if its invasive and DCIS or invasive alone then its more likely to involve chemo.

Btw you dont actually need a living relative with BC if you have it then you are the living relative..... This is only relevant for somebody who doesnt have cancer and wants to be tested.

My test wasnt done till after i had a lumpectomy and when i found out i was a brca 2 carrier i just couldnt face more surgery at that time and wanted to be a few years out of the risk of recurrence period before undertaking it... But things never quite worked out that way.... I was considering surgery next year but instead ill be having treatment again..... It wouldnt have made a difference even if i had a double mastectomy though.

Take care xxx

[mary32]

Hi

I agree that it is urgent to find out you have the gene before surgery. When I was dx they discussed my family history with me and there was enough evidence to warrant having the test done. I said that my decision over surgery would be affected by the results of the test so they fast tracked it and I got a negative result before my surgery.  This was at Guys.

Mary

[Guest user]

Thanks for all the info. I don't even know what type of breast cancer it is yet. I only found out on Tues past - my GP and the consultant both thought it was nothing but the consultant did a fine needle test and it came back positive. I am having an MRI on Tues and meeting the consultant again on Thurs so I am assuming I will find out the type grade and all the finer details on Thurs.

When I went for the core biopsy, the doctor there could hardly get it on the ultra sound and it didn't show up properly on the mamogram either. They couldn't measure it on the ultra sound scan as it's small. She took 7 pieces on the core biopsy to test all around it and she mentioned calcium spots? What are they? Everyone is saying it's caught early but of course I am still thinking the worst. 

I am torturing myself reading EVERYTHING on line and i'm diagnosing myself instead of just waiting. I can't help it I am all over the place. Cracking jokes about it one minute and crying the next. I did have a bad feeling about the gene thing from the start though. But it's not something I will get to the bottom of any time soon by the sound of it. 

Another sleepless night...

[Teej]

Hi Leesa, my oncologist recommended testing for me (I'm triple negative) but you have to be referred by your GP. GP will give you a long form to fill out re family history which he then forwards to Clinical Genetics dept , at least that's what happened to me earlier this yr - I live in Oxford which has genetics testing at Churchill Hosp. It took over 12 weeks for results (negative in my case). So might be worth you talking to GP?

[spookymoo]

Hi Leesa, I was diagnosed last July 2012 with IDC grade 3 breast cancer at the age of 43. I was referred for genetic testing as I had some family history : sister diagnosed at 27 with ovarian small cell carcinoma; maternal aunt who died aged 51 of Breast Cancer;. Maternal grandfather who died at 62 of prostrate cancer; maternal grandmother who died at 75 of BC.. I had primary chemo (had other health issues) with a view to bi-lateral mx if I tested positive. When I saw the genetic counsellor, i took my mum and sister along, and we went through family history in detail. However, I was advised that it was probably unlikely that I would test positive for Brca genes as my BC was highly ER positive (generally the TNBC in younger women is an indicator for Brca). As it was, I tested negative for both the BRCA and the TP53 gene. I was told it is probably genetic, but they just haven't identified the specific gene yet. Obviously, any genetic testing has wider implications. If I had tested positive, both my sisters and probably cousins too, would have been referred for testing. As it is I am acutely aware, whether it is  genetic or not, that my daughter (14) and son (11) are both at high risk having a first line relative (maternal) with BC. The risk is magnified for them, as my husband's sister died at 42 of Inflammatory Breast Cancer and his mum is also re cently diagnosed with BC (age 67) and undergoing treatment. Both my sisters now are now in an early screening programme for yearly mammos (they are 41 + 39 respectively). The genetic test is just a blood test, but it takes about 8weeks to go through the DNA code. They will also ask for as much family history as you can possibly give - the BRCA gene can be carried down both the male and the female line.   So it is a long wait for the result. It is pretty expensive I believe to do and there are obvious implications with a positive result as I have mentioned above. Also, only approx 5-10% of patients who have BC test positive for the BRCA gene. . These are some of the reasons why it is not widely offered to BC patients. You don't mention the status of your cancer (eg is it hormone receptor positive or negative?) - you may not get this until surgery (I had a biopsy pre chemo). I am not a medical person, but, you are young to have a BC diagnosis, and there is some family history. Perhaps you could discuss with your GP and your BCN and tell them your concerns. But I would state that you do need to consider the implications of a positive result for both yourself and other members of your family. Good luck with your treatment and all the best on your 'journey'. It isn't very pleasant. But it is doable. Emma x 

[Tolliebelle]

Hi Leesa

I am just having chemo for 2nd triple negative BC first one 2 years ago. I have been told I can be tested for faulty gene as have had bilateral under 50. But I am having treatment first they would not do it before treatment started.

Although it is only a blood test there are other factors to take into account and you have to see a councillor? before they will go ahead.

Good luck with your treatment

Hope this helps??

Jill xxx

[Guest user]

Hi

I am recently diagnosed (Tues past) at 35 years old. I am worried about the BRCA gene as I have a family history:

Sister - malignant melanoma age 28

Aunt - ovarian cancer age 58 (died)

Cousin - breast cancer age 42 (died)

Great gran - breast cancer - 40 but lived to 87

I have also had many gyney problems over the years. I asked the consultant when he told me I had early breast cancer about the genetic test and he said that I had to have a living family member with breast cancer to see if I had the gene?  I also asked the nurse when I went for the core biopsy and she said that was further downthe road - a long way away. I would have thought that finding out if I carried the gene was urgent? Because if I do have it, I won't delay in asking for a double mastectomy. 

Has anyone had expreieces or been tested for the gene? I am reading on line that it's just a blood test. And surely I am the living relative with the gene?

Leesa.