I'm in The New England Journal of Medicine!

TraciInLA
TraciInLA Member Posts: 1,994 Member
in Breast Cancer #1

I’m famous!  Please, no autographs or paparazzi….Laughing

Some of you will remember that my family was asked to participate in a study last year for families like mine with a strong history of breast cancer, but who are BRCA-negative.

Through this study, I found out that I carry the PALB2 genetic mutation, which is just starting to be studied for its possible connection to breast, ovarian, and pancreatic cancer.

The study results were published last month, in the August 7th issue of The New England Journal of Medicine, “Breast-Cancer Risk in Families with Mutations in PALB2.”  Where it says “We analyzed the risk of breast cancer among 362 members of 154 families…” – one of those 362 people is ME!

The study got a lot of media attention, as it found that breast cancer risk for female PALB2 carriers as compared with the general population was 5 to 9 times higher, depending on age.  This particular study didn’t look at ovarian or pancreatic cancer risks, so those are still really unknown.

Because there’s still so little data, there are no recommendations for what I'm supposed to now DO with all this sexy new information about my famous genes.  My oncologist is sending me to a geneticist who specializes in PALB2 research, and I’m seeing her next week. 

I’ll admit I’m anxious – it feels like we’re looking into a crystal ball to try to figure out what's most likely to kill me, which just doesn’t sound like a fun conversation.  At the same time, I certainly want her input, and to hear what her recommendations might be.

Traci  

Comments

  • Pixie Dust
    Pixie Dust Member Posts: 424 Member
    #2
    Hollywood Bound

    Traci, I am glad that you got to participate in the study. I really do think that you need to disguise yourself because the paparazzi is going to be waiting for you at you doorstep. LOL. Smile   Hugs, Pixie Dust

  • SIROD
    SIROD Member Posts: 2,194 Member
    #3
    PALB2 gene

    Keep us posted... this is interesting.  I have forgotten, has any other member of your family have this gene?

    Doris

  • New Flower
    New Flower Member Posts: 4,294
    #4
    Very interesting study

    Well Traci

    Even we live in LA it is so exciting to be friends with celebrity like you.

    Very interesting study

    reading while waiting for the shot

    this new research will help others to predict 

    hugs

  • CypressCynthia
    CypressCynthia Member Posts: 4,014 Member
    #5
    Oh man, I just missed getting

    Oh man, I just missed getting your autograph in CA!!!  That is really interesting, but it is a dilemma too.  However, I keep getting the testing - if not for me, maybe for one of my future relatives.  So far though, we haven't found a mutation - even though I am sure we have one.  Good luck with your geneticist!  Big hugs!!!

  • aisling8
    aisling8 Member Posts: 1,627 Member
    #6
    CypressCynthia said:

    Oh man, I just missed getting

    Oh man, I just missed getting your autograph in CA!!!  That is really interesting, but it is a dilemma too.  However, I keep getting the testing - if not for me, maybe for one of my future relatives.  So far though, we haven't found a mutation - even though I am sure we have one.  Good luck with your geneticist!  Big hugs!!!

    Ah, so that's why the profile picture in sunglasses

    It's all making sense now.

    It must be tiring, "Traci, turn this way!!" "There she is." "Just one more shot, please, please."

    Interesting stuff, my friend. Keep us posted.

    xoxo

    Victoria

  • TraciInLA
    TraciInLA Member Posts: 1,994 Member
    #7
    SIROD said:

    PALB2 gene

    Keep us posted... this is interesting.  I have forgotten, has any other member of your family have this gene?

    Doris

    Interesting question, Doris

    Doris, the answer to your question is part of what will probably make my case even more interesting:

    My father died very young (nothing related to cancer), so we don't know anything about his genes.  He only had 2 siblings: my Aunt J. and my Aunt L.

    Both women were diagnosed with breast cancer about 10-12 years ago, in their 50s.

    Aunt J. had one very small tumor, with no lymph node involvement -- she had lumpectomy + radiation only, refuses to take any medication, and is doing just fine 10 years later.  Aunt J. is negative for PALB2.

    Aunt L. had an aggressive form of inflammatory breast cancer which eventually metastasized to several organs, did multiple chemo regimens and oral medications, and sadly died this past January.  Aunt L. was positive for PALB2, like me.

    Now I KNOW in my head that genetics isn't simple, and that the causes of breast cancer aren't simple one-to-one correlations...but, it's hard not to look at my aunts' very different situations and get pretty anxious about it.

    Traci

     

  • GreeneyedGirl
    GreeneyedGirl Member Posts: 1,077
    #8
    aisling8 said:

    Ah, so that's why the profile picture in sunglasses

    It's all making sense now.

    It must be tiring, "Traci, turn this way!!" "There she is." "Just one more shot, please, please."

    Interesting stuff, my friend. Keep us posted.

    xoxo

    Victoria

    well~well~well

    I do have your autograph miss famous in LA.....and if I find myself in a pinch...aka cannot buy chocolate or handbags....I may revert to auctioning it off~~

    ~stay well, my pink sista~

    ~M

  • camul
    camul Member Posts: 2,537
    #9
    thats pretty impressive.
    I am excited for your family. This may be a link needed to keep others from going thru this.
    It may enaable them to make life sstyle changes iae, diet, or at least make drs loom at things closer and faster knowing you haave a gene.

    Medicarw would not pay for any genetic testing. When tmy new onco got my histor(family), just mothers side. He didnt like the number of cancer deaths. The fact that so many of us were diagnosed at woung ages. I was 22 w/cervcal.44 with breast. all except a baby(6of my mothers sibs and her , 4 were under 60). MR and 3 cousins w/breast, 44, 39 aand 50). Just learned of part of this. Brother and cousin both under 60 with cll. And aml. Son at 13 w/ et. Nephew and my. Cousins son both w/ liver sarcoma at 8 yrs old, and nephew at 12 w hodgekins lymphoma. Brother at 53 w/bladder. So I am in the study. We will not know anything..Unless one of the genetic tests comes back positve. They will tell me by phone. It may take up to 3 years to do the testing.
    He said it will not help me at all, but could help my ssons, neices and nephews, cousins and their kids.
    If positive, it will force ins companies to allow testing and treatments based on that testing. He is quite sure of a gene that he feels will be positive, which will allownfor genome testing should another one get diagnosed.
    Congrats. this really is a bigg thing fornyour family!
  • VickiSam
    VickiSam Member Posts: 9,079 Member
    #10
    camul said:

    thats pretty impressive.
    I am excited for your family. This may be a link needed to keep others from going thru this.
    It may enaable them to make life sstyle changes iae, diet, or at least make drs loom at things closer and faster knowing you haave a gene.

    Medicarw would not pay for any genetic testing. When tmy new onco got my histor(family), just mothers side. He didnt like the number of cancer deaths. The fact that so many of us were diagnosed at woung ages. I was 22 w/cervcal.44 with breast. all except a baby(6of my mothers sibs and her , 4 were under 60). MR and 3 cousins w/breast, 44, 39 aand 50). Just learned of part of this. Brother and cousin both under 60 with cll. And aml. Son at 13 w/ et. Nephew and my. Cousins son both w/ liver sarcoma at 8 yrs old, and nephew at 12 w hodgekins lymphoma. Brother at 53 w/bladder. So I am in the study. We will not know anything..Unless one of the genetic tests comes back positve. They will tell me by phone. It may take up to 3 years to do the testing.
    He said it will not help me at all, but could help my ssons, neices and nephews, cousins and their kids.
    If positive, it will force ins companies to allow testing and treatments based on that testing. He is quite sure of a gene that he feels will be positive, which will allownfor genome testing should another one get diagnosed.
    Congrats. this really is a bigg thing fornyour family!

    Stardom ... and a 'Star' on the Hollywood

    walk of frame --  on your horizon?   You are a Super Star in book, already.

     

    Vicki Sam

  • confused123
    confused123 Member Posts: 251
    #11
    My family is similar

    Hi Traci,

    Have you been on here for years?  I feel like I remember you but without the pic.  Anyway I find your post so interesting and I will have to look for this study.  My grandmother, her sister and my mom and I were all diagnosed with Breast cancer.  My grandmother was diagnosed on her 60s, my mom in her 40s and I was 33.  My grandmother and my mom's sister also had ovarian cancer.  We tested negative for the BRACA gene too and my doc told me in must be in some other gene since it seems to be genetic in my family.  I am so looking forward to getting answers and better treatments being the mom of 3 little girls.  Thank you for sharing this study!

  • RE
    RE Member Posts: 4,591 Member
    #12
    :-)

    Thank you for participating Traci, now you are indeed famous!  Kiss  Love your photo, you look radiant!

  • disneyfan2008
    disneyfan2008 Member Posts: 6,583 Member
    #13
    wow exciting

    wow exciting

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