I now have a name for why I got breast cancer: PALB2

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

I've mentioned here before that breast cancer is pretty prevalent on my father's side of the family:  Both of my father's sisters are breast cancer survivors, as well as 2 cousins and even a great-grandfather.  We've all tested negative for the BRCA1 and 2 mutations.

Last year, my family was asked to participate in a University of Washington study of BRCA-negative families like ours, and we all submitted blood samples.

On Friday, the researcher called to let me know what they've found:  We all carry a mutation of a gene called PALB2.  Stands for "Partner And Localizer of BRCA2."  Even though we do NOT have the BRCA2 mutation, PALB2 is apparently a "partner in crime" with our (perfectly normal) BRCA2 genes, and is believed to increase breast cancer risk by 2-3 times.  They can even pinpoint that the gene was introduced into our family by one of my father's parents.

(I had to laugh when the researcher described the PALB2 mutation as the gene being shorter than it's supposed to be -- everyone on my father's side of the family is short, so now we know why -- we have shrimpy little genes! :-)

Researchers are looking at connections between PALB2 and both pancreatic cancer and ovarian cancer, so that's a little scary, but they have no definitive data yet, and we have NO incidents of these cancers in my family.  The researcher will be sending me all the results and documentation in the mail, and this will be Discussion Topic #1 when I see my oncologist next month, and I'll be very interested to hear if this changes any of his treatment recommendations for me.

For now...just wow.  It's strange and cool and a little overwhelming to finally be able to put a name to why I got breast cancer.

Traci

 

Comments

  • New Flower
    New Flower Member Posts: 4,294
    #2
    Traci thank you for sharing

    Traci

    thank you for sharing.i am glad that your family has participated in the study. It is overwhelming and scary at the same time, however the knowledge and explanation is powerful and will help managing your well-being. I do not think you should expect changes in prevention as you are already on 10 years of Tamoxifen path. In my opinion (I am not a doctor) you need to be on at least every 6 months check ups and imaging, MRI  will be my choice

    Hugs and please post on my my question even you have answered it by this post

    Olga

  • fauxma
    fauxma Member Posts: 3,577 Member
    #3
    New Flower said:

    Traci thank you for sharing

    Traci

    thank you for sharing.i am glad that your family has participated in the study. It is overwhelming and scary at the same time, however the knowledge and explanation is powerful and will help managing your well-being. I do not think you should expect changes in prevention as you are already on 10 years of Tamoxifen path. In my opinion (I am not a doctor) you need to be on at least every 6 months check ups and imaging, MRI  will be my choice

    Hugs and please post on my my question even you have answered it by this post

    Olga

    I am not sure exactly why but

    I am not sure exactly why but I think it is a relief to have a reason for why you got breast cancer.  And the fact that your being part of this research and possibly opening doors to others discovering they carry this gene is a big deal.  I agree with Olga that this probably won't change your treatment but you should be seen every 6 months and monitored for the other two cancers.  I love your humor and laughed about the shorties in your family.  Maybe I have this gene as my mom's family is very short.  I am 5 feet and have short jeans.  My grandma was 4'10" but she didn't have any jeans.  LOL   On a serious note I have had genetic testing done and found I have a gene mutation for Lynch Syndorome and Muir Torre Syndrome.   Mostly with this you see colon, uterine, ovarian, and skin cancers. Increases in these cancers are fairly highly with colon at a 60% chance the highest. There are links to bladder, breast and others but they have only a slight increase over the general population.   Genetic testing is moving ahead for many cancers and while not a cure which is what we all want it can help in discovering cancers eariler so they can be treated when they are at the lowest stages so again, thanks for being a lab rat.  For a reward have some cheese cake.

    Stef

     

  • marilyndbk
    marilyndbk Member Posts: 238 Member
    #4
    I just happen to go to site

    I just happen to go to site this evening. I have not been on for years. I was intrigued by results of your gene testing.  My mother passed from breast cancer 44 yrs ago at the age of 46.  My first diagnosis was in 2001 at age of 49.  I chose lumpectomy/radiation.  I went in for brac gene testing. was negative.  In 2009 at age 57 breast cancer returned in same breast.  Dbl mastectomy with reconstruction.  They suggested gene testing but said so many genes may not be any of them.  I chose not to do any further testing.  If it would help any of my kids, grandkids, family. etc. I would have had it done.  I always wonder why I was chosen to have breast cancer. I have 5 brothers and 2 sisters.  no other cancer in my family.  In 2013 I was diagnosed with bladder cancer. It came as such a shock.  Drs say this is not connected to breast cancer.  I have had surgery, treatments, biopsy(clear) maintenance treatments, scopes.  I am doing what I can to keep my bladder no more store bought parts for me (haha). Anyway sorry this is so long. I hope the results have given you some peace and info to keep watch for. Marilyn

  • marilyndbk
    marilyndbk Member Posts: 238 Member
    #5
    I just happen to go to site

    I just happen to go to site this evening. I have not been on for years. I was intrigued by results of your gene testing.  My mother passed from breast cancer 44 yrs ago at the age of 46.  My first diagnosis was in 2001 at age of 49.  I chose lumpectomy/radiation.  I went in for brac gene testing. was negative.  In 2009 at age 57 breast cancer returned in same breast.  Dbl mastectomy with reconstruction.  They suggested gene testing but said so many genes may not be any of them.  I chose not to do any further testing.  If it would help any of my kids, grandkids, family. etc. I would have had it done.  I always wonder why I was chosen to have breast cancer. I have 5 brothers and 2 sisters.  no other cancer in my family.  In 2013 I was diagnosed with bladder cancer. It came as such a shock.  Drs say this is not connected to breast cancer.  I have had surgery, treatments, biopsy(clear) maintenance treatments, scopes.  I am doing what I can to keep my bladder no more store bought parts for me (haha). Anyway sorry this is so long. I hope the results have given you some peace and info to keep watch for. Marilyn

  • SIROD
    SIROD Member Posts: 2,194 Member
    #6
    I think it is wonderful that

    I think it is wonderful that you know what caused your breast cancer.  

    Doris

  • sbmly53
    sbmly53 Member Posts: 1,522
    #7
    Like Olga said,

    Knowledge is power. Kind of takes the boogie an out of the closet.

    Sue

     

  • CypressCynthia
    CypressCynthia Member Posts: 4,014 Member
    #8
    This is so interesting to

    This is so interesting to me.

    We suspect that we have a genetic issue also coming from my dad's side.  He had no sisters but had colon cancer.  His older brother died of colon cancer.  The baby (now 90) has had numerous colonoscopies and has had polyps, but has escaped cancer.  My dad's mom and all of her 4 sisters died of breast cancer (1 had breast and colon).

    I have 3 sisters and 3 brothers.  Of the 7 of us, 4 have had cancer (3 breast, 1 thyroid).  Everyone gets colonoscopies - so far, so good.

    BRCA negative, but all of our docs think a genetic mutation will one day be identified.

    Thanks so much for sharing.  this news gives me hope. :-)

  • TraciInLA
    TraciInLA Member Posts: 1,994 Member
    #9
    CypressCynthia said:

    This is so interesting to

    This is so interesting to me.

    We suspect that we have a genetic issue also coming from my dad's side.  He had no sisters but had colon cancer.  His older brother died of colon cancer.  The baby (now 90) has had numerous colonoscopies and has had polyps, but has escaped cancer.  My dad's mom and all of her 4 sisters died of breast cancer (1 had breast and colon).

    I have 3 sisters and 3 brothers.  Of the 7 of us, 4 have had cancer (3 breast, 1 thyroid).  Everyone gets colonoscopies - so far, so good.

    BRCA negative, but all of our docs think a genetic mutation will one day be identified.

    Thanks so much for sharing.  this news gives me hope. :-)

    CC, may want to ask your doctors about PALB2 & CHEK2

    CC, with your family history, you may want to ask your doctors about not only PALB2, but also CHEK2. 

    The genetic researcher who spoke with me let me know that some of my (more distant) relatives are positive for CHEK2, another breast cancer-related mutation, but I'm negative for it, so she didn't talk much with me about that one. 

    City of Hope has some good information for medical professionals on PALB2 (http://www.cityofhope.org/PALB2), and there's a link on the right-hand side for CHEK2, as well.

    Hope that helps!

    Traci

  • CypressCynthia
    CypressCynthia Member Posts: 4,014 Member
    #10
    TraciInLA said:

    CC, may want to ask your doctors about PALB2 & CHEK2

    CC, with your family history, you may want to ask your doctors about not only PALB2, but also CHEK2. 

    The genetic researcher who spoke with me let me know that some of my (more distant) relatives are positive for CHEK2, another breast cancer-related mutation, but I'm negative for it, so she didn't talk much with me about that one. 

    City of Hope has some good information for medical professionals on PALB2 (http://www.cityofhope.org/PALB2), and there's a link on the right-hand side for CHEK2, as well.

    Hope that helps!

    Traci

    Thanks so much for this info!

    Thanks so much for this info!

  • cahjah75
    cahjah75 Member Posts: 2,631
    #11
    Traci thanks for sharing

    Since I am the 5th on my Mother's side and the 5th on my Father's side I found what the researches had to say interesting.  As the 3rd of 4 daughters with BC I had the BRACA test done.  i too was negative but the counselor I saw told me that some day they might have an answer as to what gene may have caused my cancer.  Before my double mastectomy they asked permission to send some of my tissue to research.  I may not every hear anything but it's nice to know that they are still researching to find other's common genes.

    Char

  • carkris
    carkris Member Posts: 4,553 Member
    #12
    cahjah75 said:

    Traci thanks for sharing

    Since I am the 5th on my Mother's side and the 5th on my Father's side I found what the researches had to say interesting.  As the 3rd of 4 daughters with BC I had the BRACA test done.  i too was negative but the counselor I saw told me that some day they might have an answer as to what gene may have caused my cancer.  Before my double mastectomy they asked permission to send some of my tissue to research.  I may not every hear anything but it's nice to know that they are still researching to find other's common genes.

    Char

    Thanks for posting . I am

    Thanks for posting . I am seeing a new oncologist at Dana Farber and will ask. I get so freaked because of my kids. but knowlege is power I know.

  • carkris
    carkris Member Posts: 4,553 Member
    #13
    carkris said:

    Thanks for posting . I am

    Thanks for posting . I am seeing a new oncologist at Dana Farber and will ask. I get so freaked because of my kids. but knowlege is power I know.

    Traci how does it feel to

    Traci how does it feel to know? anyway i now am getting an appointment in 6 months with a genetics person. thanks for the info.

  • burcu123
    burcu123 Member Posts: 66
    #14
    Thank yo so much

    I have significant family history of breast cancer too. I am as well as my sister are tested negative for BRCA1 and 2 . It is wonderful to have this information. I will also talk with my physician.

  • burcu123
    burcu123 Member Posts: 66
    #15
    marilyndbk said:

    I just happen to go to site

    I just happen to go to site this evening. I have not been on for years. I was intrigued by results of your gene testing.  My mother passed from breast cancer 44 yrs ago at the age of 46.  My first diagnosis was in 2001 at age of 49.  I chose lumpectomy/radiation.  I went in for brac gene testing. was negative.  In 2009 at age 57 breast cancer returned in same breast.  Dbl mastectomy with reconstruction.  They suggested gene testing but said so many genes may not be any of them.  I chose not to do any further testing.  If it would help any of my kids, grandkids, family. etc. I would have had it done.  I always wonder why I was chosen to have breast cancer. I have 5 brothers and 2 sisters.  no other cancer in my family.  In 2013 I was diagnosed with bladder cancer. It came as such a shock.  Drs say this is not connected to breast cancer.  I have had surgery, treatments, biopsy(clear) maintenance treatments, scopes.  I am doing what I can to keep my bladder no more store bought parts for me (haha). Anyway sorry this is so long. I hope the results have given you some peace and info to keep watch for. Marilyn

    Knowledge is always helpfull

    I am sorry to hear your story. It is possible if yo got chemotherapy that the cytoxan in the chemotherapy regimen caused your bladder cancer. Cytoxan is a well known carcigen for the bladder. It is possible to protect the bladder with MESNA but it is not used in breast cancer treatment. It is a common oncological arogance to refuse Mesna during cytoxan as they believ the dose given is not large enough to cause bladder cancer. They are wrong it does it is just not proven yet. One of my friends who has cytoxan for breast cancer treatment also had bladder cancer.

    Also please for th eother female members of your family check chemoprevention of breast cancer in Komes's web site of just google it. It is possible to prevent breast cancer before it happens for high risk individuals . This is another great ignorance of medical society. There are FDA approved medications to prevent breast cancer

  • bluewillo
    bluewillo Member Posts: 20
    #16
    LOL, Traci!

    So, let me get this straight. You are BLAMING some poor innocent SHORT person who has been long dead and was, I say again, SHORT, for your cancer? Did you find out who? Where they are buried? Are ya gonna do #1 on their grave?Innocent

     

    I'm totally being funny here, I hope you get my (whacked) sense of humor. When I read the title of your post, I thought a PERSON named Pablo gave you cancer...you know, like as a gag gift?

     

    Seriously, I'm glad you have all the info you have! I wish I could get the testing.... and then I would name that relative BIOTCH!!

    (and yes, I'm late to the thread..but that's how I roll! LOL!)

  • LoveBabyJesus
    LoveBabyJesus Member Posts: 1,679 Member
    #17
    Interesting...

    Wow Traci! We learn something new everyday. I was negative for BRCA1 and 2. But recently, I participated in a study to have a genome test done which I am supposed to get results for this month. I waited 6 months for it. I will know my risks for ALL cancers.

    It is scary to learn too much about your genes but I would rather know than not to. It would also help my family who have limited resources where they live.

    It's good you have this information. You are doing all you can to take care of your health. Some things we have no control over but we have faith. And that is ours forever.

    Good luck with your Onco appt.

     

  • Kklugs
    Kklugs Member Posts: 1
    edited November 2016 #18
    PALB2

    Wow- I just found out this afternoon that I was negative for brch1 and 2 but positive for PALB2. I am one month in from getting diagnosed with breast cancer and 2 chemos in. I have been asking "why me" for the last 6 weeks and now I know why!! No family history of any cancer on either side and I am scared because i have two young daughters! I have to have surgery in 4 months and scared of not making the right decision!

     

  • 1stTimeStage2
    1stTimeStage2 Member Posts: 38 Member
    #19
    Thank you for sharing!

    That is helpful info for your family members to be extra vigilient with screening, etc.

  • Linda8537
    Linda8537 Member Posts: 2
    #20
    Hello, I am new here.  I had

    Hello, I am new here.  I had breast cancer in 2008, genetic test in 2009 which was negative.  I was the first in a large family to be dx with bc.  Soon after 2 cousins and an aunt were dx.  They have been tested recently, along with my uncle, and they all tested positive for PALB2.  This explains to me why my cousin died of pancreatic cancer at the age of 30.  (I am 50).  I think I will be retested.  I'm thankful (and saddened) that I have found other people who have this mutation. I will keep you posted on when I will be tested and the results.

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