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Listing our BRCA mutations - maybe we can find matches

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  • Charles_Pelkey
    Charles_Pelkey Member Posts: 99
    edited April 2014
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    Thank you, "life,"

    I freaked when I was diagnosed (having, "quite coincidentally," lost a 17-year editorial job at a magazine on the same day as my diagnosis). Oddly enough, after a few weeks - lumpectomy, double mastectomy and diving into chemo - I found the whole thing to be rather amusing. I have no idea why, but it sure helped me through the whole process. I am not sure one can force humor into bad situations, but it sure did help.

  • grayeyes
    grayeyes Member Posts: 533
    edited April 2014
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    I couldn't agree more, Charles.  Humor has helped me, too.  At a certain point, life just becomes hysterically funny.  When I first was diagnosed, I cried and cried.  Then everything that could possibly go wrong during treatment went horribly wrong.  ;-)  I kept wondering, "What could possibly happen next?"  And then, sure enough, something else would go wrong.  By the end of the year, when my oncologist and genetics counselor gave me the news (that I was BRCA-2 positive), all three of us burst into laughter.  I can't even explain why I found everything so amusing, but I'm sure other survivors can understand.

  • ZoeHE
    ZoeHE Member Posts: 1
    edited May 2014
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    Hi ab1234,

    I have the same mutation as you. This is the first time I have come across someone with the same one. If you don't mind my asking, what is your background/ethnicity? I am from the U.K. now living in USA. My family (mother's side) with the mutation is of Ashkenazi (spell?) Jewish decent. My mom passed from OC. Look forward to chatting with you.

  • Cammychris
    Cammychris Member Posts: 23
    edited May 2014
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    BRCA2+ R3128X I had a 84% chance of developing BC by age of 70 I was DX at 34. I also had a 27% chance of ovarian cancer I will have ovaries removed. I had to have right breast removed and also left on 5/15/14. I have a 12% of reoccurrence in 5 years. I understand most but 12% of reoccurrence is that based on gene alone or with chemo. I am so confused 

  • cleigh
    cleigh Member Posts: 2
    edited June 2014
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    BRCA 1 3875del4

  • bestock
    bestock Member Posts: 186
    edited June 2014
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    BRCA1

    1479delAG

    I had stage 4 ovarian in 2003 and BC in 2006, 2008 and 2013 -- stage 4 breast cancer. My sister and cousin tested positive for this, only my cousin has done the preventave surgery.

  • RosieA
    RosieA Member Posts: 1
    edited July 2014
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    Hi all,

    BRCA2 4512insT

    This was first found by my niece, who had Ovarian cancer at age 28 in 2009, then BC a year later. She's a rock star! No one in my family had BC until I was diagnosed in 2007. My paternal Grandmother died of Ovarian cancer in her 70s in the early 50's. We figure the mutation came down from her. German heritage.

    Since then it's been identified in both my brothers, but not my sister, and one of my sons.

    Since finding out, I had an Oopherectomy, and I've been on Tamoxifen since 2011. Lately I have had some spotting and a trans-vaginal ultrasound showed that my uterine wall has gone from 6 mm to 10 mm in the last 3 years, suggesting a possible Tamoxifen related problem. Having a D&C next week to see what's up.

    I thank God that this testing is available, making it possible for us to take preventive actions!

  • AlexaP
    AlexaP Member Posts: 90
    edited July 2014
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    BRCA2+ R2520X. "Early onset" and "Swedish/Germanic origin" (the mutation, not me, although I have a strong feeling it's in my Slavic roots) ...  No family hx I know of except my moms brother and his son both had colon cancer (supposedly this gene mutation  only affects breast, I think that's not quite right)... Trying to find others with same mutation.  May have posted here before on this link, if so, I apologize.  It's hard to find info on this stuff... Getting ready to tell nieces and cousins. Nervous as all hell to do this but they need to know. I was originally dx at age 31 and now on the doorstep of 50 I find this out... 18 years was a nice reprieve but a little deceiving, didn't think I would be thrown back into this again. False sense of security. I only did the test becuz a family friend is a Gyn/onc and he STRONGLY suggested I do it. None of my drs ever did!!!  Shocked when it came back positive. I feel like Sandra Bullock hurtling through space heels over head...

  • alyca
    alyca Member Posts: 1
    edited July 2014
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    Looks like welldang and cleigh and I have the same mutation BRCA1 3875del4

    Interesting....

  • SoapMaker
    SoapMaker Member Posts: 3
    edited July 2014
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    Hello. I am BRCA1+...del exons 21-24. I just found out last June. I live in the US but understand that the mutation derives from Western Europe. I have Irish and English ancestry. All four of my mom's aunts had OC. One of those aunts also had pancreatic cancer, which is what she died from. One of the other aunts' daughters also had OC, at age 37 and died from it. Mom's brother had PC and died from mets. Mom didn't get OC or BC, but she did have colon cancer (related???). She survived. I was dx'd with bc in 2002, triple negative. No recurrence. My oldest daughter got bc just before her 40th birthday (triple -). She got a new primary in her other breast, four years later (er/pr+, Her2-). My youngest daughter has recently tested positive for the mutation. In March, I had prophylactic removal of ovaries, tubes, uterus and cervix. Pathology was clear.

  • dixie60
    dixie60 Member Posts: 19
    edited August 2014
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    I am BRCA 2+ 617delT. I guess it’s a pretty common mutation.

    I was Stage 2 BC: chemo, rads, tamox, and now arimidex, BMX, SGAP reconstruction, prophylactic ooph.

    It comes from my father. He had prostate cancer, as did his brother. Their mother had “female” cancer.

    My half sister is BRCA 2+ as well, but no cancer—and she is 12 years older than I am. She had prophylactic BMX and ooph to be on the safe side.

  • jkbrca2
    jkbrca2 Member Posts: 16
    edited August 2014
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    I am brca2+ with 8525delc deleterious mutation. It comes down the Irish bloodline in our Moran family line.  I am 1/4 Irish (counties Cork, Kilkenny, Waterford) 1/4 Welsh, 1/4 German and 1/4 Greek. We've traced it to my maternal great grandmother who died of breast and possibly ovarian cancer in her late 40s. Her sister also had the gene which passed on to third cousins of mine whom I haven't yet met.   My grandmother had it in her 70s  and my mother in two separate incidences at 58 right side and 62 left side. Both my grandmother and mother had hysterectomys before BC diagnosis so I dont feel oorphectomy is enough to protect myself.  My grandmother had a mastectomy on the one side and wore a breast form. My mother had a lumpectomy and chemo tge first time with radiation. And the 2nd time had a mastectomy with reconstruction using the back  muscle.   This was eniugh tissue to match the A cup. I'll be getting PBMX without reconstruction next summer at 39 when my son is 4 and old enough to not be carried often. For many reasons no reconstruction is the right choice for me and I will get breast forms for work, etc.  I will have oorphectomy at 39 or 40 in summer 2016. I am concerned about early surgical menopause, as well as osteoporosis because I'm lactose intolerant. 

  • Jare
    Jare Member Posts: 2
    edited September 2014
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    Hi, I have brca 2 mutation 8765delAG, Dx. 2005, Bilateral. Mastectomy, followed by adriamycin,cytoxan and taxol.  4/31 nodes positive. hormonal therapy 4 months tamoxifen, 8 years arimedex, presently on exemestane. So I'm presently a 9 year survivor with a brca mutation!  There is hope.

  • grayeyes
    grayeyes Member Posts: 533
    edited September 2014
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    Jare - That is encouraging to hear!  Congratulations on the nine years.  Thanks for sharing. :-)

  • QuinnCat
    QuinnCat Member Posts: 408
    edited September 2014
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    Jare - very good to hear.  I'm surprised, though, that you have taken arimidex or exemestane for 8 years.  I didn't think that was protocol yet? Can you elaborate?  I'm also very curious if you know anything about your ER and PR status.  Both greatly positive?  PR negative?  I'm brca2+ also, but almost PR- while being ER+, which gave me a high oncotype score.  No node involvement though. PR- isn't usually good.

  • Jare
    Jare Member Posts: 2
    edited September 2014
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    Hi QuinnCat, The plan for a Aromotase inhibitor is for at least 10 years and possibly indefinitely, I'm ER PR positive, my oncologist has kept me on a anti hormonal due to strong family cancer. My grandmother, mother, sister, several aunts on mothers side all had breast cancer with several dying fairly young. I do get a pamidronate infusion every 6 months to help prevent bone loss. I'm sure our brca mutation came from my mothers side she was French Canadian. It has been a tough 9 years since diagnosis but I'm active and cope with the side effects of anti hormonals with exercise, staying active and a friendly dose of Advil. I just want other people with stage 3 and brca mutation to know it is all possible to live long and stay strong!

  • AndreaM4567
    AndreaM4567 Member Posts: 11
    edited September 2014
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    BRCA2+ 6174delT

    I see a lot of people reporting this particular effected gene as hitting early in life. 

    My grandmother, mother and I were all late 30's and pre-meno. 

    Just thought I would add the info for those testing positive for BRCA2+ 6174delT.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited October 2014
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    I'm BRCA2+ 465insG.  My mom had BC at 44 and died of stage 4 at 48.  Her paternal grandmother had a mastectomy of one breast in her 60's after a BC diagnosis and lived into her 80's.  No other family history.  My mother was never tested.  According to Myriad I'm the only one in their database with this mutation.  As more people in my extended family get tested that could change.  It is unsettling though.  Not that I would want any of my family members to have it :)

  • wilsonworld97
    wilsonworld97 Member Posts: 2
    edited October 2014
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    We have the same mutation.

  • wilsonworld97
    wilsonworld97 Member Posts: 2
    edited October 2014
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    We have the same mutation.

  • dominionite
    dominionite Member Posts: 1
    edited October 2014
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    Hello. I am also Michelle with the same mutation.

    I found this post via random Google search of my mutation.

    Just wondering... What benefit do you see in finding someone with the same mutation? 

    Michelle

  • moderators
    moderators Posts: 8,286
    edited October 2014
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    Welcome to the community dominionite. We are glad that you reached out and hope that you will find support and information here in this wonderful community. We hope that you will stay connected and continue to post. The Mods

  • QuinnCat
    QuinnCat Member Posts: 408
    edited October 2014
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    anneoftheforest - curious, if your mutation is the only known one in the database, how do they know it is deleterious?  I thought they had to have accumulated multitude of instances across different families?

  • QuinnCat
    QuinnCat Member Posts: 408
    edited October 2014
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    Jare - just noticed your reply.  My MO won't give me another 5 years unless the studies are finished.  Sounds like yours stepped out of that box.  Thanks for the reply.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited November 2014
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    QuinnCat - In reference to your question, I actually called Myriad about that same question and they said with my mutation since I have an extra G it causes the premature truncating of the protein so it doesn't do its job to suppress tumors. 

    It makes sense to me as well since I was diagnosed with DCIS at 37.

  • QuinnCat
    QuinnCat Member Posts: 408
    edited November 2014
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    Thanks anneoftheforest - I'm chuckling inside since my mutation is missing a "G."   Maybe you got it! :)

  • georgiagator
    georgiagator Member Posts: 5
    edited November 2014
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    BRCA 1+ 4184del4.     At last, one of my doctors realized that I should be tested for a mutation this past summer.  Hello? Diagnosed at 36 with stage II double negative breast cancer (no test for Her2 in 1989). Four years ago it was discovered, when I had a complete hysterectomy for endometrial cancer, that my ovaries were "precancerous". I am very grateful that I have been vigilant about my breast health for the past 25 years with no further problems and that my doctor and I believe that the endometrial cancer prevented me from getting ovarian cancer.

    I am having a hard time getting family members tested for various reasons.  A well known, and well respected,  cancer center in Tampa is stalling and delaying the test for my mother.  She is a long time patient there, but they won't do the test until she gets genetic counseling.  Apparently there is a long wait to see one-about 4 months!!!!  She is anxious to find out, probably because she worries that she passed it on to me, even though I told her that no one is to blame.  She has stage four melanoma, is 84 and won't take any action medically no matter the test results.  I have already explained to her all she really needs to know.  Since my father is dead and we don't have any family history of breast/ovarian cancer, the results of a test done on my mother would determine which side of the family to notify.

    It's difficult when your family is scattered from coast to coast.

  • lekker
    lekker Member Posts: 238
    edited November 2014
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    Georgiagator - your mom only needs to be tested for your specific mutation, right?  If so, a single-site test is relatively inexpensive. I thought a first degree relative of anyone with a known mutation qualifies for the single-site test, although I understand that different insurance companies and doctors can have different rules.  I'm usually one to push for genetic counseling before any testing, but in this case (won't change medical treatment and patient is elderly with end-stage Cancer) I would think a doctor could just order it.  If she were found to carry the mutation, the relatives you notify should have counseling before deciding to get tested for the standard reasons, but your if your mom agrees to the test, they should just do it.  To be clear, that last sentence is my opinion and I am not a medical professional - just someone who's been through a lot of genetic testing.  I hope you're able to work it all out.

  • georgiagator
    georgiagator Member Posts: 5
    edited November 2014
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    Y

    Lekker, you're right. My mother only needs to be tested for my specific mutation. I went with her to her MO appointment in September to get him to order the test. I even gave them a copy of my results. It's not an insurance issue at all. The only hold up is getting the genetic counselor appointment. She has tried getting my sister's doctor ( she tested negative and was completely covered by instance) to do the test. No way would he do the test as he wasn't taking on new patients. She has tried with her other doctors and no one will do it as it's not what they do. I guess she'll just have to wait. Frustrating!


  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited January 2015
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    QuinnCat - Your post made me laugh. I'd gladly give you my extra G if I could :)