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Anyone else been told they have confirmed inheritance of the BRCA1 (Breast/ovarian) cancer gene?

(22 Posts)
cookiemonstress Thu 18-Jun-09 17:36:34

Hi
I found out this week that I have inherited the BRCA1 breast cancer gene. Although not a surprise as my mother has had breast cancer and now have terminal ovarian cancer as did her mother, it's a massive blow nonetheless. Not least because I have 2 girls myself.

I was wondering if there were any other mumsnetters in a similar position and what their experiences are? At this point, I am certain that I will do whatever I can to reduce the risk including risk reducing surgery (esp as my mother was only 39 when she first got breast cancer) and am under the care of Guy's hospital who seem v good. It would be really useful to hear other peoples experiences etc.

THanks xx

Blondeshavemorefun Thu 18-Jun-09 17:43:59

my friend had the brca 1 gene - she was just 30 i think, single and no kids

her aunt and mum both died of breast cancer

she decided to have a double masectomy year before last

she will be having hopefully a boob job this year- she did have several infections after the op or would have been done sooner

we joked she would have nice pert breast where mine are saggy

she has no regrets, and has met a lovely man since

do you have support of a partner/dh?

How old are your dd's?

deepinlaundry Thu 18-Jun-09 17:50:21

My friend has the gene, just had hysterectomy and will have double mastectomy at guys in a few months. She will also have reconstruction using her own nipples. I am meeting up with her next week- she won't mind answering any questions if you want me to ask. I know that for her daughters they advise they have ivf to ensure future babies don't carry gene- hopefully wiping it out for their family. My friend is 39 , feels positive and more in control now.
Y

prettybird Thu 18-Jun-09 18:08:05

I was nearly in this situation (althugh can't remenber if it was BRCA1 or 2), as my father was contacted by one of his danish cousins to say that they had identified that this gene was in our family - traced definitely back to his grandmother, so they were checking all her descendents.

We were relatively confident that we were clear as my granny (his mother) had lived until she was 89 and my aunt (dad's sister) is now 69 - and the cancers tend to hit much younger than that. If the gene had been passed on, then the likelihood is that it would have shown up in at least one of them.

My granny was dead by the time the geneticists had indentifed that the family was at risk, so, dad got tested and is clear - so that I can be confident that I am OK.

However, my aunt, who lives in SOuth Africa and would have had to pay for the testing, has chosen not to be tested. Her view was that at her age it would make no difference. She has a son - so he is safe - and he has a 2 year old son, so again, not an issue. However, his wife is pregant again and they will need to take a view if they have a girl, whether she should be tested.

However other branches of the family have been absolutely decimated by breast and/or ovarian cancer.

It looks like granny and her older sister (who is still alive, well in to her 90s) didn't carry the gene, but that all their other siblings (interestingly, now that I come to think about it - all brothers) did hand it down to thier children. maybe it would have been picked up sooner if it had been passed on via the daughter as the men, as carriers, effecitvely meant that that it skipped a generation.

I suppose the positive thing that you can tell yourself is that at least you do know about it now, you can make choices (even if they are not always the most pleasant of choices) and your daughters can be screened as soon as they want or need to and make the necessary decisions.

cookiemonstress Thu 18-Jun-09 19:10:36

Hi Ladies

Thanks for all your quick responses. Really encouraging to hear people who have had the surgery and have no regrets. I'd be interested in the emotional journey's people have been on as well. This wasn't a surprise so I'm surprised by how much it has shook me. It doesn't help that my mum has asked not to know the result so she has no idea that we both have it and with her, I'm staring cancer in the face so to speak.

I am totally certain I will opt for surgery. My dds are 2 and 4 and I don't want anymore and I want to do everything I can to reduce the risk so I don't have to spend the rest of theirs lives worrying that I'm going to get ill. I have a very supportive partner and my view is that no matter how radical or difficult the surgery, it can't be worse than being diagnosed with cancer, even if it were just the early stages.

I do feel lucky that I have the opportunity to make choices though but also very sad that my mum didn't.

thirtysomething Thu 18-Jun-09 19:17:32

will follow with interest as I'm at the stage of deciding whether to have the testing or nor, as been told I have a 50% risk given my family history.

I have found considering the testing hard enough; I really admire you for being brave enough to face all of this. It's not an easy thing to do by any means.

sadstuff Thu 18-Jun-09 19:29:00

Hi cookie. Name changed as the subject gives me the willies. Had breast cancer and now getting on with my life very happily so don't like to dwell on it too much.

I have the gene, actually it could be BRCA2, but def one of them. My mother had breast cancer, as did her sister. As did their father (prettybird - men do get breast cancer. men can carry the gene and have it affect them, not just pass it on - best to be aware maybe?) and the fathers mother, and grandmother. So my families riddled with it!

I was first to have the test but this was after I had been diagnosed, so already ahd the hysterectomy and double mastectomy. Obviously with hindsight I would say if I'd known I'd have had the surgery.

I had my cancer in my early 40s, my mothers was in her late 40s. My daughter (early 20s) has seen a geneticist (is that a word hmm)already. She was told that if she tested positive yearly screening wouldn't begin until she was 30 so she's left it for now and they pointed out that she could still have surgery after she'd had her children if she wanted to breastfeed - something young people probably wouldn't think about right now.

How old are your girls? By the time they have families genetic screening will probably be much more advanced so if they do carry the gene they could choose to look into this.

A very un mumsnetty (((hug))) as I know it's an utterly shitty time, especially as your mother isn't well. sad

prettybird Thu 18-Jun-09 19:42:15

The one that is in the family is just one that affects women apparently (mostly manifests as early onset ovarian cancer) - does that make it BRCA2? I know that the geneticisits weren't too worried about the males. But it does have a very high penetration rate - something like 70% chance of getting cancer if you carry the gene - hence our belief that "our" side of the family is clear as two generations of women have got beyond 50 without it manifesting itself.

My brother and I don't need to be tested as dad doesn't have it - but my cousin does need to think about it to be sure - but in SA it would cost a lot of money, even though they know exactly which one they are looking for.

prettybird Thu 18-Jun-09 19:43:55

... and I forgto to add, {{{{{Hugs}}}}} to both sadstuff and Cookiemonstress.

sadstuff Thu 18-Jun-09 19:47:07

Ahh of course prettybird, I forgot that there obviously must be some differences between BRCA 1 & 2. I really must look up which one our family actually has. smile

TheMadHouse Thu 18-Jun-09 20:55:09

Hi there

I have the BRACA1 mutation in my genes, through my mothers side of the family.

I am a regualr mumsnetter mainly on the Fly htreads so....

This means I had an 85% lifetime risk of Breast Cancer and a 60% risk of ovarian and the other cancers.

My mum is the only female member of the family who has got to 54 withour having anytype of cancer and the only female to live to 65.

It was diagnosed due to family history and my aunt (mums youngest sister) being diagnosed with Primary Peritoneal cancer way back in 2005. She is thankfully in remission currently and doing very well.

I had an oophorectomy in July 2008 (ovaries and tubes removed) to reduce my risk of those cancers, doing this before my 35th birthday was believed to be even further risk reducing by some studies. I had colonoscopy and gasgoscopy to check those areas was having a double mastectomy and reconstruction in Feb this year.

At the time my boys were two and nearly 4, so decided to have a bi-lateral mastectomy and reconsructrion with implants, mainly due to the recovery and operation being shorter. My cousin had a trans flat and all though the results are fantastic she was off her feet a fare while - not too bad for her as her children were 15 and 16. Also I chose not to keep any of my breast tissue including nipples, as that would have increased the risk of cancer. I was told this would reduce my risk for 85% to around 6%.

I went in and had the operation on 28 Feb - op itself was fine, pain was managable - I was on a self administered pump initially for morphine and I had two drains in. I was up and about the same day.

I stayed in hospital 5 days and came home with the drains in. returning for dressings and check ups. Drains were to be removed once fluid got doen to less than 20ml per 24 hours. That never happend for me, infact I had a massisve increase in fluid after day 7.

So consultant decided to take drains out anyway and see what hap[ened. It was then that things went drastiocally wrong I had had a reaction to the impalants and had to have them revmoved along with affected tissue and skin. Then I got septicemia and almost died

I have been left with really emotional issues and feelins about the way I look. I feel butchered. DH find it difficult to look at the area let alone touch it

So I need some help to come to terms with what has happened and learn some techniques to enable me to accept that this has happened and this is the way I am going to be for the forseable future, if not forever.

Sorry if that turned into an essay. It hurts to be left like this, even though I did it for all the right reasons, to be with my precious family for longer. It doesnt stop me feeling mutulated .

I know that I made the right decicion for me to have the risk reducing surgery, but I was not prepared for things to go this wrong - it is very rare.

In some ways I felt that I had no decision to make and that by doing nothing I would have been signing my dealth sentance. I have seen my aunt go though the chemo etc, I have also witness another one loss her battle with cancer, along with many of my mums cousins. I dont remember my Grandma, as she died when I was very young.

I live in hope that the fact that they can identify the spelling mistake in my genes, means that when the time comes for my boys to be tested that not only can they identify it but they can correct it at source.

Feel free to ask any questions you may have. I am sorry that you have to go through this and also so sorry for your mother too.

TheMadHouse Thu 18-Jun-09 20:56:06

Sorry for the length of that post blush

prettybird Thu 18-Jun-09 22:17:16

You've rally been through the mill TheMadHouse {{{{{Hugs}}}}}} I know it'll take time but I hope that you will start to see things more positively.

I feel doubly even more fortunate that I didn't have to face that awful choice - and feel for my second cousins who have had to.

suwoo Thu 18-Jun-09 22:30:27

So if my mum survived breast cancer after a mastectomy, lymphecectomy (?) and rigourous chemo and radiotherapy and a new drug trial, would I be able to get tested?

Does it need to be present in more than one generation/family member to neccessitate testing?

TheMadHouse Thu 18-Jun-09 22:38:47

Suwoo - I am not sure that if you would qualify or not.

My Aunt was offered the test duw to the rarity of her primary cancer and family history.

Funding can be difficult to gain in some PCT's and the member who has the cancer has to be the one tested as they need to know where to look initially. Then they only look for that spelling mistake in your genes, not any other genetic mutation.

I am positive that I have done the right thing. I have had it easy compared to the ladies who have had breast cancer.

sadstuff Thu 18-Jun-09 22:38:53

Has your mum been tested suwoo? Maybe unlikely if she's the first to have it in the family. If they find it in her then it's easy to locate in you as they know the location (probably totally wrong genetics speak but that's the rough idea)

What ages was she when she was diagnosed? The younger she was, the more likely its genetic. Are they any other cancers in the family, ovarian in particular?

I think something like 95% of breast cancer is a one off so there probably has to be an indicator there before they start looking into genetics. It's worth asking your doctor though if you're concerned. If they don't think genetics is a risk then try asking for earlier screening.

Hope that helps.

cookiemonstress Thu 18-Jun-09 22:49:20

THanks everyone for your support and kind words. It's a massive help, especially just to talk to people who know what I'm talking about.

The Madhouse. Thank you so much for sharing your story, it can't be easy and I'm grateful for you taking the time to share it. I'm so sorry you have been through the mill and hope you get the support etc you need to see you through.

Like you, I feel that I can't take the chance in not having the surgery, particularly after watching my mum battle ovarian and breast cancer. Maybe if I was single or didn't have young children, I would feel differently but I feel I need to do everything I can to reduce the risk. It's a scary prospect though.

It's really a sh*tty situation I feel surrounded by cancer constantly as ironically I work for a Cancer Organisation. I'm also having to be the one to tell cousins etc who previously have been unaffected largely. It's more of a shock for them.

I'd be interested to know how people manage the reactions of those around them. I have only told my very closest friends and a few family members and want to try and keep it this way.

I just feel gutted for my girls. I'd give anything to ensure that they haven't inherited this. It breaks my heart to think they will potentially be in this situation.

Suwoo, you would probably need to speak with your doctor. If your mum is still alive, you can tested I'm sure. Most breasts and ovarian cancers are spontaneous i.e. non hereditary, so to establish the risk, the geneticists will look at your entire family history, but it's worthwhile asking.

Thanks again :-)

cookiemonstress Thu 18-Jun-09 22:51:53

suwoo, sorry cross posts. The other ladies beat me to it while I was adding my long post!

NorthernLurker Thu 18-Jun-09 22:58:57

No personal experience of this but I used to know somebody n your position. She waited to complete her family and then she had a double mastectomy. She had 4 daughters btw.

suwoo Fri 19-Jun-09 08:13:21

Thank you for all your comments and for sharing your stories.

I will ask my mum today, but she lives in France now, so testing wouldn't be that straightforward.

She was about 49 when she got it, so fairly young. Don't know of any other female cancers in the family and my nan is still going strong at 83 grin.

sadstuff Fri 19-Jun-09 17:54:36

I think you could def put forward a case for earlier screening as that begins at 50 I think. Thinking living in a different country might make the genetic testing tricky. Even if you tested positive for the gene if you decided against surgery you would just get yearly screening from around 30 so if they offer you that then it'd be worth having

suwoo Fri 19-Jun-09 18:36:39

My mum has rang her specialist nurse today who has researched her records and the good thing is, she didn't have that type of breast cancer, it was hormonal and one of those 'unlucky' things. So very positive for me, my sister and DD.

Sorry to hear of others not so fortunate. sad

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