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Listing our BRCA mutations - maybe we can find matches

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  • Nelson5104delAA
    Nelson5104delAA Member Posts: 3
    edited January 2015
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    Hi! I'm 34 and I've known I'm positive for 5104delAA for the last 10 years. I've been trying to find someone else with the same mutation. You sort of feel alone sometimes.

  • Nelson5104delAA
    Nelson5104delAA Member Posts: 3
    edited January 2015
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    It's extremely frustrating to find out information about the specific mutation. I've figured out my specific mutation is in the "ovarian cluster" but not really sure what the significance means. My mom and aunt have the exact same mutation, neither of them have had cancer. Their two cousins (with same mutation) had breast and ovarian cancer. Their father (who gave us all the mutation) had prostate cancer. Since my mother hasn't had cancer (although has had TBO) I'm trying to figure out what I should do as far as whether to do prophylactic surgery or not. If you come up with any information, please pass it along.

  • greenvibe
    greenvibe Member Posts: 2
    edited April 2015
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    hi I am brca1 3875del4 too welldang

  • greenvibe
    greenvibe Member Posts: 2
    edited April 2015
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    I tested positive for BRCA1 3875del4

  • natlie38
    natlie38 Member Posts: 5
    edited May 2015
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    I am BRCA-2 positive, my mutation is 3003deIT

  • Alaska1B
    Alaska1B Member Posts: 1
    edited June 2015
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    Me too! Most interested in your story, your cancer journey if any, age, family history. I'm 61 and was tested 23 years ago- to be negative- when I had bc. Now I had OC and was re-tested- viola- positive for exon 13 ins 6kb.


  • Ginger_16
    Ginger_16 Member Posts: 23
    edited January 2016
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    does anyone have c.5937c>G ? variant under the BRCA 2 ?

  • UpNorth
    UpNorth Member Posts: 1
    edited February 2016
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    I am BSRCA1 3171ins5

    I found a few others with this mutation listed on the FORCE database. Since my mutation is a "Founder Mutation" going back 50 generations and has a heavy concentration in Sweden, I contacted someone on the database from Sweden. My great great grandfather was from Sweden so I am getting help with my family tree and my "mutant sister" in Sweden is assisting me. Somehow, someway, we are related but we have just started scratching the surface in discovering how.

    I'll keep you posted in what I discover!


  • bosterh315
    bosterh315 Member Posts: 3
    edited February 2016
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    BRCA1-4507ins7-Deleterious

    (BRCA1 Positive, BRCA2 V.U.S.)


    At 22 (in 2005) I had my right ovary removed. 6 months later was an exploratory surgery and removal of the left ovary. At 23 (in 2006) I was told I had a very rare, aggressive, and genetic ovarian cancer at my post-op appt. This was a complete surprise and total mystery because no one in my family had ever had this type of cancer. I went back into surgery where they removed my uterus and cervix. I opted not to do hormonal therapy for personal, more complicated reasons. I followed up with my two PET Scans through the next year and because everything came up clean I did not do any further tests or preventive procedures/ checkups. Young and invincible I even stopped getting blood work, pap smears, etc.

    Fast forward to 2014 my new physician demanded I see a Gynecologist. Older and more compliant I did as I was told. Because of my history they did the BRACAnalysis. After that I had completely forgotten about it until the results showed up on my doorstep this last Tuesday, 2 years later. Positive for deleterious mutation it read, at 4507ins7. I didn't know what I was looking at or what it even meant.

    Real quick, a little family history. My maternal grandmother was diagnosed with breast cancer in 1994. Everything was removed with no recurrences. She ultimately passed away from brain cancer in 2013 at the age of 74. My maternal aunt was diagnosed with cervical cancer in her 20's. She has been estranged from the family since I can remember so I don't have any other info on this. There is no contact with the fraternal portion of my family since my early childhood so I have no medical history on that side. I am the first to have genetic testing done in my family.

    Naturally, I made an appt. with my Gynecologist for as soon as possible which because of a cancellation was 2 days later. I spent a lot of time on Google trying to understand as best I could what was happening. I spent even more time hoping this was would end up being nothing. Maybe one of those things you get in the mail that scares the buh-jeebies out of you only to find out it's some scam. Unfortunately, the tone my Dr had with me when discussing my results shattered any hope of this being just a bad dream and Myriad is, in fact, a real and reputable medical business.

    Another couple of days later I had an MRI and mammogram scheduled for the next week, an appt for my husband and I to speak with a genetic counselor through Myriad was set up, and an appt with a surgical oncologist that specializes in this field of genetic mutations that affect the breasts and ovaries was made. Basically, my husband and I have gone from 0 to 120 mph in something we had no idea even existed until a week ago. We have decided to leave our children out of the loop until we see the surgeon and have a more clear course of action planned. No need to concern them until we know exactly where things stand and we are equipped with more information. That is really the part that scares me most.

    I have so many questions and from what I understand;

    * All decisions for action are purely preventive (given my scans are clear).

    *This is NOT a cancer diagnosis! Instead, I've been given a 91% chance of getting breast cancer in the next 40 years of which will more than likely be triple.. something, which means it will be much harder to treat in the event I do get breast cancer. A 40+ year nightmare and I get to control just how intense it can be.

    My husband has no doubts as to what measure should be taken, bless his heart, and I agree but am still processing. I would REALLY like to hear from people who were found positive on the BRCA test. What decisions did you make and if it's not too personal, why. How did your family respond? How fast did everything happen from when you received your results to making a decision? How aggressive did your doctors recommend you be? I have so many things running through my mind as I'm sure you all did. I could really us some direction with this and to know that I'm not alone. Thank you so much for taking the time to read this and I hope your life is finding you well.

  • BayouBabe
    BayouBabe Member Posts: 1,467
    edited February 2016
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    bosterh315 - be sure one of the places you check out for information is FORCE, Facing Our Risk of Cancer Empowered, www.facingourrisk.org. Sending you hugs as you face an overload of information and decision making

  • bosterh315
    bosterh315 Member Posts: 3
    edited February 2016
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    BayouBabe-

    Thank you so much for the direction, I am going to the site now. And many more back to you for everything you've already endured.

  • lintrollerderby
    lintrollerderby Member Posts: 70
    edited February 2016
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    Hi bosterh315,

    I'm very sorry to hear about your results. I understand the shock they can cause. I don't have a family history of breast cancer and was diagnosed completely out of the blue with Triple Negative at age 34. I didn't expect to be positive for a deleterious mutation in BRCA1, but I was. I also tested through Myriad and they were a wonderful resource for me. I almost certainly inherited the mutation from my father, who died of what my MO suspects was pancreatic cancer. My daughter (my only child) tested positive as well and had a bilateral nipple-sparing mastectomy with immediate reconstruction.

    As BayouBabe suggested, FORCE is a great resource for us.

    Please post or PM if you have any questions.

    All the best.

  • Nelson5104delAA
    Nelson5104delAA Member Posts: 3
    edited February 2016
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    I have the BRCA2 5104delAA. Does anyone know of a specific site where one can join a registry specific for a particular mutation. I would think that studies on specific mutations might be helpful for giving tailored advice. It seems to me that potentially we might be over-estimating some mutation risks? I just underwent a prophylactic sapling-oophorectomy for suspicious ovarian cysts (benign, thankfully) at the age of 34. "Hello menopause" hasn't been too bad.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited February 2016
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    Hi Nelson510delAA,

    The only place I know of were people list mutations currently is on the FORCE website forum. There is a specific thread for listing mutations and finding others with the same mutation. I searched on the site and I see there are others with your mutation. I too think it would be a good idea to catalog them. So far I haven't found anyone with my BRCA2 mutation. I called Myriad, where I got my testing done, and asked how many others had my mutation and they said I am the only one ... so far. My sister was negative for the mutation and my brothers haven't test yet. We are all in our 30's and our mother died 20+ years ago of breast cancer. My mom's paternal grandmother had breast cancer in her 60's but that is all the breast/ovarian cancer we know of in our family.

    I went through my BSPO a little over a year ago. No hormones and handling it okay other than the hot flashes ,,, but they are manageable :) My nine year old told me I have a "short fuse". It isn't an ideal time of life to go through it but being cancer free is priceless!

  • Poodlelover
    Poodlelover Member Posts: 15
    edited May 2016
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    I have BRCA2 VUS - P3054L, no matches on FORCE site. Trying to decide about oophorectomy in light of this. I was dx at age 41, my Dad had prostate cancer in his early 40's, other family hx on his side of breast and colon cancer.

  • katsie
    katsie Member Posts: 4
    edited October 2016
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    I'm BRCA1. Had my daughter tested, and she is negative, but has Hashimoto syndrome. I also had my son tested because men can have BC. He was also negative. My 1st cousin on my Dad's side, has BRCA1 and her daughter has triple negative BC (she 38). She did not test positive for the BRCA. My Mom's side has no cancer. So far I've survived 2 BC's and am undergoing treatment for the 3rd, which spread. The cancer link appears to be on my Dad's side of the family. It's the only thing we could figure out.

  • lisaaredman
    lisaaredman Member Posts: 1
    edited April 2017
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    I also have the 2576delC mutation. I have been working with a few others with this mutation that also are a DNA match to me through Ancestry.com DNA. We all would like to know which family line carried this gene to us and figure out how we are related. We are close to figuring out this connection but not close enough! Let me know if you any of the 2576delC people her are also on Ancestry DNA. ~Lisa

  • moderators
    moderators Posts: 8,187
    edited April 2017
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    Dear lisaaredman,

    Welcome to the community. We hope that you find someone. You can do a search for 2576delC on the blue tool bar to you left. You might find others more quickly that way. Let us know if we can help. The MOds

  • Wilsonlm
    Wilsonlm Member Posts: 1
    edited September 2017
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    Hi, also BRCA1 2800delAA and looking to connect with others.

    Cheers,

    Lee-Ann