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trshtwns01 [userpic]
by trshtwns01 (trshtwns01)
at June 28th, 2006 (06:43 pm)

I have known for a long time that I have a strong family history for breast and ovarian cancer, and my mom has battled it twice. I had even had pre-cancer in my cervix and colon, and I'm only 36. When I took my mom to her new oncologist, he suggested I get genetic testing.

Yesterday, he called to say the results were back on BRCA1 and BRCA2 and he wanted me to come in to talk to him today. They found a mutation in BRCA2, but it is a rare mutation. The testing lab has only found 13 people with this particular mutation, so they aren't sure of how much of a relationship it has with breast cancer. The mutation is V1610M. It really doesn't mean much to me now.

It has scared me though. With my family history, my history, and this mutation, the oncologist wants me to immediately get a diagnostic mammogram and ultrasound of both breasts. Then I have to get mammograms every 6 months. He also mentioned prophylactic mastectomy and immediate reconstruction. My children will also have to get tested in the future.

As it is a rare mutation they don't know much about, the testing lab is testing my family for free.

If it turns out my mother has the same mutation, then my chances skyrocket and I need to look at being more aggressive with this.

Has anyone in the group taken preventative measures against breast cancer upon finding out about a BRCA mutation?


Posted by: clownfish13 (clownfish13)
Posted at: June 29th, 2006 01:43 am (UTC)

Hugs first of all, and important business first, I love that icon, can I use it?

Secondly, I am also young, 30 and found out about four and a half years ago. The thing I have noticed is Oncologists see cancer all the time, they see it in a bad way. We have time, very lucky to know so early. Don't let him or her scare you right off the bat. Definately get everything checked out but don't feel rushed or be scared to make any big decisions right now. I recommend if you haven't found it yet, to go onto facingourrisk.org. They are wonderful and have so much information and resources.

I am very open about my status, BRCA2+ as well for the record. So ask me anything. As for me, two years ago almost I had my ovaries removed and a full hysterectomy. I am really glad I did and was ready to do it when I did it. You have lots of time, don't worry. The mammograms and other tests are a pain but they aren't as bad as they seem at first. You get used to the whole gammot of tests pretty quickly. Hope that helps!

Posted by: trshtwns01 (trshtwns01)
Posted at: June 29th, 2006 02:25 am (UTC)
One of those days

You can certainly use the icon :)

You've made me feel a bit better. Did you choose just to have more frequent mammograms? I only have one ovary, having lost one in 2002 to a cyst, and since we don't want any more kids (we have 5-year-old twin boys)I wouldn't have a problem losing the other at some point if I choose to go that route.

The only problem I have is with the mutation they found. I can't find any information about what impact the type of mutation you have has on your outlook. The oncologist said the particular mutation I have (V1610M) has only been found in 13 people. I asked out of what sample size, and he told me that Myriad is the only lab in the US that does that genetic testing, so it is out of EVERYBODY in the US that has been tested. So they really don't know that much about it. That's why they are so keen to test my family for free, just to get info on the mutation and its hereditary links. However, only 13 people means they just don't know what it does really. Only 2 of those 13 have developed BC so far.

Over 4 1/2 years, you've probably learned more about this. Does just having ANY mutation in HBCA2 or HBCA1 mean you have a greater risk of BC, or is it only certain mutations? I've heard figures like being HBCA1+ or HBCA2+ mean that instead of a 12% chance of having BC, you have more like a 65-85% chance. I'm just unclear whether that is regardless of the mutation - just if that GENE is mutated at all you have increased chance.

Thanks for the info!

Posted by: clownfish13 (clownfish13)
Posted at: July 11th, 2006 02:58 am (UTC)

Oh geeze I have taken WAY too long to write back. I am really not sure on those different mutations. I don't know about any of the specifics really on the mutations and the risk. They don't even know the exact risk for the big ones. That is so hard to not know if it increases the risk and then still have to make the same decisions. But hugs and I hope that you find more info on FORCE. Maybe you'll meet one of those other 13! :)

Posted by: The Artist Formerly Known as Irish_Lily (kellygreen)
Posted at: June 29th, 2006 03:36 am (UTC)

First off, I'm so very sorry to hear about your test results. Getting my positive results back was one of the most difficult days I've lived so far, and so I empathise with you completely.

The things your oncologist mentioned are the exact same things mine planned for me. I have mammograms and ultrasounds every six months, as well as MRIs. Because I am so young still (22), prophylactic mastectomy was discussed but decided against by my mother and my oncology team. I would have it done immediately, but they seem to think it would be a bad idea just yet. I also want to have a full hysterectomy, but since I haven't had children yet I'm going to wait for a bit, until I'm 30.

My father has the same mutation, which is why I was tested in the first place. I'm very glad that you decided to be tested. Just knowing and being aware of the risks is half the battle -- now they'll know to be on the lookout for any changes, no matter how insignificant they may seem.

I wish you the very best of luck with any treatment and screening options you decide to take, and please know that I'm here if you ever need someone to talk to who is in a similar position.

-- Erin xo

Posted by: roadrunnerdm (roadrunnerdm)
Posted at: July 7th, 2006 10:03 pm (UTC)

I received my positive test result at 36 too, but I had not yet had children (though planned to do so soon), so I chose to wait for just a few more years before taking agressive preventive measures. I did plan to have a prophylatic mastectomy and oopherectomy as soon as I had a child, but unfortunately I ran out of time and was diagnosed with Ovarian cancer at 38. As a result of the cancer, I underwent a full oopherectomy and hysterectomy and I now plan to go ahead with a bi-lateral mastectomy as soon as I complete chemotherapy.

I completely understand your confusion over what course of action you should take now, especially since your particular mutation is so rare, but since you acknowledge a known family history of both breast and ovarian cancer I would definitely recommend extreme diligence and a very thorough checkup at this time. Be sure that in addition to a mammogram and breast exam that you also get a blood test for CA-125 and ask your doctor to include a pelvic ultrasound to be sure that your remaining ovary and abdomen are clear. Also, be informed of all early signs of Ovarian Cancer, because it's a sneaky bastard that gives very little advanced warning, and never ignore any symptoms should they occur, even if they appear very mild.

Since you're done with childbearing, I would recommend giving serious consideration to surgical prevention, but provided that all your diagnostic tests come back clean, give yourself time to let the options sink in. Instant, premature menopause does include some drawbacks so don't feel you need to rush right into it if there are no current signs of cancer.

Posted by: ((Anonymous))
Posted at: August 16th, 2007 09:08 pm (UTC)
VRCA@ Variation V1610M


I did the BRACAnalysis testing back in January of 2006. I have a genetic variant of uncertain clinical significance which is also V1610M. At that time there were 10 families. However, the information that I've received is that it is not the same as testing positive for BRCA2. That at this time, now 8/07, there are 21 families with this variant, but they do not know if it is harmful or harmless. Did you test positive for BRAC2 and had this variant or did you have the variant only? I wish you the best in your future.

Best wishes,

Posted by: trshtwns01 (trshtwns01)
Posted at: August 16th, 2007 10:17 pm (UTC)
Re: VRCA@ Variation V1610M

They do not know if this variant is harmful or not when taken on its own. I did a lot of talking with the genetic counselors, a regular counselor, my OB/GYN and three breast oncologists. The genetic counselors seemed hesitant to say it may lead to an increased risk of cancer, just because there isn't enough information available. They were also very careful to say it did NOT mean that it does NOT increase my risks.

They tested my mom for free, and she had the same variant, so there is a hereditary link to that variant, they believe.

All three of the oncologists I talked to felt that at the minimum I should get the hysterectomy (done with having kids and my OB/GYN found that I was already in perimenopause and had lost over half the size of my remaining ovary), and that they would recommend the mastectomy and reconstruction based on several things:

- I have such a strong family history, and several were before age 50

- They don't know for sure that this variant isn't a contributing factor, but my mother, who has had it twice, has the same variant

- I have a panic/anxiety disorder that would make it fairly stressful to remain as hypervigilant as I would need to be and get tested every six months

Fast forward to now :)

In October 2006 I had the hysterectomy with no problems.

December, 2007 I had the bilateral mastectomy and immediate reconstruction with DIEP. We had a blood clot and then couldn't regain blood flow to one breast, so we lost that flap.

April, 2007, had the other flap reconstructed using the latissimus dorsi muscle and an expander.

Just had my last expansion last week, and on November 30 they will put in a small implant under that flap so it will match the natural tissue in the other breast.

Do I regret it? If you had asked me after the December complications, I would have said yes. I was still upset and shocked because it was a surgery I didn't HAVE to have, and this 'simple surgery' turned out to take more than a year. Now, I have had time to reflect on it, and put things in perspective. I don't regret it. I would probably choose to do it all over again. I don't have that sword hanging over me.

They tell you about complications in surgery for a reason. They do happen, although rarely. It just took me a while to realize that I just hit the lottery on that one, but it doesn't mean that overall things weren't successful. Things are looking really good and I am very happy with the way my body looks now.

Good luck with your future and regardless of how you approach things, I wish you the best!

Don't hesitate to let me know if you find out anything new about that variation, since my family will have to keep their eyes open for it.

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