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PALB2 mutation

245

Comments

  • weety
    weety Member Posts: 378
    edited October 2015

    Hi, exerciseguru,

    I tested positive for PALB2 about two years ago after my dad's pancreatic cancer diagnosis. His father also had pancreatic cancer. Because of this mutation, I still see my oncologist every 4-6 months and he runs tumor markers for both breast cancer and pancreatic cancer. every 2-3 months. I also see my gastroenterologist yearly for an endoscopic ultrasound of the pancreas, as well as an MRI of the pancreas to assess for any changes. So far I've had two of the procedures and no change has been detected. However, my brother who also is PALB2 positive and seen by the same gastroenterologist, had mild to moderate indications of chronic inflammation of the pancreas at his first endoscopic ultrasound. They are following up on him in 6-8 months, I believe. Pancreatic cancer is so scary, and having two family members already die from it has put us all on high surveillance. I don't think I will ever be able to prevent it from happening if it is to be, but at least this surveillance can catch it early if any changes are detected.

  • exercise_guru
    exercise_guru Member Posts: 333
    edited October 2015

    Thank you for telling me about pancreatic screening. I will ask my oncologist about it.

  • exercise_guru
    exercise_guru Member Posts: 333
    edited October 2015

    I was diagnosed with Bilateral Breast Cancer ( rare ones side HER2+ one side ER+/PR+) I had a double Mastectomy but now as I finish up Chemotherapy I have more treatments ahead.

    I am trying to decide about a hysterectomy or oophrectomy in December. My Breast cancer oncologist feels that with my diagnosis this would be acceptable but not absolutely necessary it would reduce my recurrence by 4% at most he feels the PALB2 is a bigger issue. My MO referred me to a Gynecological oncologist and this doctor feels that my chance of ovarian cancer is higher because of PALB2 and combined with my Er+ cancer I should have a oophrectomy at least ASAP. This is to both reduce my risk of ovairan Cancer, recurrance of Breast Cancer and to reduce the estrogen in my body. It seems they are treating it very similiar to BRCA1/BRCA2.

    I am just curious for some input on this. I am already starting to go into Chemopause but this is a very permenant surgery.

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited October 2015

    Exercise guru - Re: pancreatic screening: my bs referred me to a gastroenterologist who specializes in pancreatic cancer. We'll be screening (via endocscopic ultrasound - EUS) every 18 months. EUS enables biopsies to be done of anything that looks suspicious. With luck, the screening will allow us to spot anything before it actually becomes cancerous or at least when it's in its earliest stages. I hope you this helps a bit. Unfortunately, I have no insight into the question of oophorectomy or no. Weety's right - pancreatic cancer is scary.

  • COhockeymom
    COhockeymom Member Posts: 10
    edited November 2015

    I hope you are doing well Exercise Guru post mastectomy and with your chemo--you certainly have a lot on your plate right now! My OBGYN and Oncologist are fine with me "waiting" before starting any ovarian or pancreatic screening to see how things flush out in my family. The PALB2 is from my moms side and so far aside from myself and my mom (oldest of 8) being positive, 2 of her sisters are positive--one with BC at 47 and again at 49 but the other is just a year or so younger than my mom but no cancer of any kind. It's so tricky trying to decide what to do as some docs will agree that screening for ovarian/pancreatic just increases anxiety and unnecessary surgery/testing since finding either early is less common and yet my aunts genetic counselor (the one with no cancer at 68) suggested mastectomy, oophrectomy, and pancreatic screening---. My radiologist who used to do my mammograms and ultrasounds had also said they are starting to do surgery where they remove just the fallopian tube as a preventative measure and leave your ovary--i.e. hormones in tact but that I should wait a couple years to see if they determine that to be an effective alternative. I hope you have a good genetic counselor to help you navigate your very complicated family risk and like you--wish the research would catch up with the testing. Best of luck!!!

  • Mommasuz
    Mommasuz Member Posts: 1
    edited November 2015

    I agree, I wish the research would catch up with the testing. I am 47 yrs old and diagnosed with BC several months ago ER+/PR+. My sister had BC at age 44 (10 years remission) ER-/PR-, along with a paternal aunt and paternal great aunt along with maternal side colon cancer. I have a variant for PALB2 and my Oncologist does not seem to be to concerned with these results. He seems to feel that not enough studies have been done to warrant mastectomy and oophorectomy and I will just continue with annual exams/mammos/MRIs. My sister is scheduled to have her genetic testing done late next month, she did not have it done prior because we did not know about the family history until years later. Wish the studies could move along quicker to know if relevant or not. Good luck ladies!

  • moderators
    moderators Posts: 8,744
    edited November 2015

    Mommasuz, welcome to BCO, and thank you very much for sharing. And indeed, we are sending our hugs to all of you amazing women!


  • COhockeymom
    COhockeymom Member Posts: 10
    edited December 2015

    Hello fellow PALB2ers Winking I was doing a search on PALB2 research just to see what's out there and came across a PALB2 interest/research group. One of the research leaders is Antonis Antoniou whose research in the New England Journal of Medicine Aug 2014--Breast-Cancer Risk in Families with Mutations in PALB2 is one of the largest studies of PALB2 and breast cancer risk, so I would consider this a reputable research group. They have a Contact Us form if you have a confirmed PALB2 mutation and were interested in sharing some of your family history. I don't know what else would be involved as I just completed the form today but thought I would share. You can find their site, and what they recommend for screening for breast, pancreatic, ovarian cancer etc. at www.palb2.org

    Happy Holidays and hope everyone is doing well!

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited December 2015
    Thanks a LOT for the link - I had no idea such a group existed and was collecting such info.

    Very happy holidays to you, too!!
  • Warriorlove
    Warriorlove Member Posts: 2
    edited December 2015

    Thanks for the research link. I just found out I am palb2+. I lost my sister to bc but she was brca2+. I don't know if she was tested fo palb2. Feeling a little nervous and getting a mammogram tomorrow...

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited December 2015

    Warriorlove - I'm so sorry about your sister. What a loss...

    Testing for PALB2 is very recent, so it's unlikely your sister was ever tested. While being having a mutation in the PALB2 gene is definitely unsettling, it's better to know about it so that you can be proactive (as you are). (I'm a huge believer that knowledge is power.) Good luck with your mammogram tomorrow, and welcome to BCO.

  • COhockeymom
    COhockeymom Member Posts: 10
    edited December 2015

    I hope all went well with your mammogram warriorlove! I think my genetic counselor told me the PALB2 option was just added to the breast/ovarian panel in August 2014 or around then. My mom and aunt were both BRCA negative but after my testing--I did it without a breast cancer dx due to my family hx and number of biopsies--since tested positive for PALB2 as well. It's good to know but would be better if the research was more helpful with risk assessment. Knowing you have a mutation but not knowing as much as you would like about the mutation was hard for me.

  • Montrealer
    Montrealer Member Posts: 2
    edited December 2015

    Hello, I am new to this pm u its. I was tested positive e for the PalB2 mutation following my dads diagnosis of pancreatic cancer.

    Since finding out I have the mutation I have had an MRI of the breast, Mammogram and ultrasound. All 3 tests came back clean, yay. Despite this the recommendation from the breast specialist is to consider a prophalatic double mastectomy. Has any one else received the same recommendation after finding out they are positive for the Palb2 mutation .

    I don't have any members in. MY family with breast cancer but I do have several with Pancreatic cancer. I don't know if this increases my risk? I was told my risk is about 20-40%.

    I am 44 with young children and making a decision that is right for me and my family is difficult.

    Any and all advice is welcomed. I am waiting to hear back from my Genetic counsellor regarding his thoughts on the surgery. Is it over kill???

  • Warriorlove
    Warriorlove Member Posts: 2
    edited December 2015

    Thanks COhockeymom! My doctor actually changed my mammogram screen to a diagnostic mammogram when she found out I was PALB2+. They do those at another facility so my appointment is now tomorrow. My sister was actually BRCA1+ and I did find out my grandmother had pancreatic cancer. I agree with you about it being so new there is not a lot of information to (as I would) obsess over. I tried to look up my specific allele since there seem to be so many different mutations of PALB2 but couldn't really find anything too definitive. Glad the studies are continuing and will be following closely..

    Montrealer, I will be meeting with a genetic counselor but have not been given any opinions yet...

  • mustlovepoodles
    mustlovepoodles Member Posts: 1,248
    edited December 2015

    I have 2 gene mutations, PALB2 and Chek2. Finding out about these gene mutations totally changed my treatment plan, from lumpectomy-rads-AI to 4 rounds of chemo, followed by BMX and oophorectomy. I see the BS tomorrow to discuss it further. My MO is adamant about getting rid of the breasts--my lifetime risk for getting BC was calculated at 45%+, so obviously I have it now and my genes are not to be trusted.

    There is a LOT Of cancer in my family--32 cases in my 1st & 2nd gen relatives. My father's mother had 4 different cancers (cervical, uterine, breast, and 2 bouts of colon cancer!) Many cases of colon, breast, and no-smoking lung cancers. Two pancreatic cancers, and other random cancers. Just in my own family of origin there are 5 cancers (out of 7 people), including another sister who has had BC and one who had uterine cancer. There are also two aunts who had BC at 47 and 24~!

    My kids are very concerned, as well they should be. They have a 50% chance of also having one or both gene mutations. They also have a 50% chance of being negative, and that's what I'm hoping for. We just sent off their genetic testing this week. Hoping their health insurance is going to pay for it.

    I haven't seen my GI doc since my last colonoscopy in 2012, but I guess after the first of the year I need to make contact and see if they want to do more frequent colonoscopies on me (I'm 59.)

  • farmerlucy
    farmerlucy Member Posts: 596
    edited December 2015
    poodles - That is a terrible legacy. Keep Color Genemics in mind if your kids have trouble w ins. Might be cheaper than copay at $249.


    Does your doc think the risk of recurrence is increased due to family history? Or once the Breast tissue is gone the risk is similar to those at the same stage? My lifetime risk was 50% but no known mutations. Just curious. Take care.
  • exercise_guru
    exercise_guru Member Posts: 333
    edited December 2015

    Montrealer

    There are only two studies out on Palb2 and so everything you will read comes from those two studies and they are not large. I will see if I can find the reference later as it would be useful to post on the thread.

    I have not heard of prophylactically getting a BMX but I wouldn't be surprised if in a few more years it becomes a recommendation. For now it seems like if you are diagnosed with BC then a BMX is the route to go.

    I have had it and I will have an oophrectomy because my BC was ER/PR+. The data is still out on ovarian cancer but my MO felt like because of my circumstance (see stats below) and family history (Ovarian Cancer) that I should go ahead and get a prophylactic OO and go on Arimidex.

    I feel like a prophylactic BMX is a major thing to go through. I don't think that my sisters would do this but with family history now maybe it will be considered. You might want to check the FORCE website. There are a lot of women who have had prophylactie BMX for BRCA1/2. They might atleast let you know about what to expect in making your decision about choices of reconstruction etc. Also if you do go this route be very picky about who your Plastic Surgeon is. Remember it is your body.


    Can I ask what your screening plan is if you choose not to go this route? I am gathering information to help my sisters know what is available to them.

  • Montrealer
    Montrealer Member Posts: 2
    edited December 2015

    hi, thank you for the info.

    I have not been diagnosed with BC but rather just a high risk due to the PALB2 gene mutation.

    The screening that I've done so far is an MRI, mammogram and Ultrasound which is to be repeated every 6 months and die the risk associated with pancreatic Cancer I will be starting MRI, books work and an endoscopy every 6 months alternating between the Mri and endoscopy. That is the current guideline recommendations currently for the study I'm involved with.

    I'm still trying to digest the recommendation for the prophylactic mastectomy. It's a big decision. The geneticist I deal with is one of the ones that wrote the article in the New England Journal. I have written to his team and I'm just awaiting a response.

    I don't plan on making any decision until my due diligence is complete. It's a scary surgery, although Cancer is scarier.

  • mustlovepoodles
    mustlovepoodles Member Posts: 1,248
    edited December 2015

    Farmerlucy asked: " Does your doc think the risk of recurrence is increased due to family history? Or once the Breast tissue is gone the risk is similar to those at the same stage? My lifetime risk was 50% but no known mutations. Just curious. Take care."

    I think it's a combo of the two, both family history AND gene mutations. I think her concern right now is to get rid of as much breast tissue as possible and hope that secures a breast cancer-free future. Of course, there is no guarantee. But I know that if I don't have the BMX and I suffer a recurrence 3yrs, 5yrs, 10yrs down the road, I'll be kicking myself for not being as aggressive as possible now. As she put it, "If this cancer returns, I cannot cure you." Whoa!

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited December 2015
    Not much is known about the risk of recurrence with PALB2, as I understand it, and some recommendations for management can vary with age in that younger women should probably seriously consider bmx but for older women it's a gray area. That's where family history probably comes in, too.
  • exercise_guru
    exercise_guru Member Posts: 333
    edited December 2015

    Montrealer can clarirfy which screening is for Pancreatic Cancer if any. I plan on taking this information to my MO so I can get screening for that. Right now I think they are just trying to get me through my BC.

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited December 2015
    Exercise Guru, the pancreatic specialist I was referred to recommended pancreatic EUS (endoscopic ultrasound) every 12-18 months, with follow up depending on findings at baseline. Some of this would be dependent on both personal and family history.

    It sounds like Montrrealer is in a study, so that protocol would probably be more intensive.
  • farmerlucy
    farmerlucy Member Posts: 596
    edited December 2015

    poodles - wowza - that comment would get my attention!

  • emailtracylbrown
    emailtracylbrown Member Posts: 3
    edited January 2016

    Hello all. I just got PALB2+ results back. I am 43 and have never been DX with cancer. Sister was DX with BC 8 years ago. She was Stage IIA Grade 3 Triple Positive. She was not tested because of the type of cancer she had is typically not a genetic cancer, however is pursuing testing now. Grandmother had cervical and pancreatic cancer--died from pancreatic. We think it's from my mother's side either her father or mother. Her father's sister and his niece died from BC too.

    I'm meeting with a genetic counselor soon. Am getting MRI with contrast of breast to ensure no issues and have a pancreas ultrasound scheduled. My gyno basically said I have three options: Checkups (mammos and MRIs) every six months, go on Tamoxifen, or mastectomy. Waiting to hear what genetic counselor has to say to make some decisions. Anyone else out there with similar story?

  • exercise_guru
    exercise_guru Member Posts: 333
    edited January 2016

    This is a new test that just recently became available. I am 42 but was only tested because I had breast cancer so young. Please post about your pancreas ultrasound I would like to pursue this once I am through with treatment.

  • weety
    weety Member Posts: 378
    edited January 2016

    Montrealer,

    My PALB2 was also found after my dad's pancreatic cancer. I did go back and have the second breast removed once I got the PALB2 diagnosis, but there were a lot more reasons for me than it sounds like for you. I had an aggressive breast cancer at age 38, I had a suspicious cyst on my ovary with solid components (ended up benign but I chose with dr recommendations to remove everything anyways) and my brother, who carries the same PALB2 mutation, has had breast lumps (so far all benign) as well. My mutation seems to be a more virulent one--lucky me! My father's father also died of pancreatic cancer. At times I feel doomed, but my GI doctor still follows me as well as my oncologist every 6 months. They run all tumor markers (breast, ovarian and pancreatic cancer ones), as well as a yearly MRI of pancreas and yearly endoscopic ultrasound of pancreas. My MRI's and Ultrasounds have always come back clear each time, but my brother's most recent ultrasound showed some chronic inflammation of his pancreas already! Scary! He is just 39 years old. I hate all this, but for me, knowledge is power. I know I can't prevent it in our cases, but my hope is that it would be caught super early.

    I also joined a few research studies about the gene and pancreatic cancer, and I research the gene quite often, trying to stay on top of things. It looks like John Hopkins has a study going on where they check the pancreatic juices in patients with high risk for pancreatic cancer. I would like to join, but I'm in California and because it is a certain type of study (can't remember the type) my insurance policy would not cover it. For now, I'm comfortable with the yearly tests I get, but as I get older, I might look into that method more. My grandfather was diagnosed at 70 and my dad at 62, I think. There seems to be some "rule" about the decade earlier, so as I get closer to 50, I will start thinking more seriously about it. Right now, I'm 45.

  • COhockeymom
    COhockeymom Member Posts: 10
    edited January 2016

    I think you are on the right track with surveillance for breast cancer. A PBM is a big decision and one I made only because breast cancer was the issue in my family as no one has had pancreatic cancer yet. I have the benefit of having a large family of aunts and uncles ahead of me to see how their health history plays out and get a clearer idea of how this mutation affect our health and for now will use that as my guide for risk as this mutation clearly affects all of us differently. Great that you have some excellent researchers on your care team to help guide you! Best of luck!


  • DC2Bmore
    DC2Bmore Member Posts: 1
    edited January 2016

    I have no personal history of cancer but was diagnosed this week with PALB2 after two first cousins diagnosed with cancer tested positive (age 44 and age 39) ... cancer diagnoses came within a few weeks of each other last year. They were only tested because of their young ages and closeness in diagnosis. My paternal grandmother died of BC, my aunt survived stage 4 IBC in the 90s (miracle!) and my father survived prostate a few years ago - but no one ever seemed to question those cancers because they weren't terribly young. PALB2 is just entering the understanding as a highly-penetrant gene and its frustrating that the testing is outpacing the reserach, but I'm certainly glad to know while I have time to get in front of it.

    I am aggressively pursuing a preventive BMX because I simply don't care to wait around for this to maybe drop into my life later on. I just got married in August and waited a long time to get family started. I'm ok to wait a bit longer if it means some serious prevention right now. I'm the next oldest (37) after my cousins. My genetic counselor told me that I'm unlikely to find a BS to recommend the surgery because its not on the official guidance docs, but I have researched this so much over the last few months that a 58% lifetime chance plus my family history is simply too much anxiety for me to personally handle. I'm a worrier/hyper-planner and I think my husband would suffer as much as I would if I needed a lifetime of high surveillance and biopsies. I've had experience with major surgeries (wrist fusion, tendon ruptures in my hand, etc) and know all too well the risks associated with going under the knife. But this is something I have peace that surpasses all understanding and willing to take on the insurance companies if I can find a BS to support me in this. I know there aren't too many "PALB2+ but no cancer diagnosed" yet around (I've looked .....) but hope to hear more on the boards as the test is more widely available. It might not be an actual BRCA diagnosis, but the little research that is out there is showing that is could reach similar, at least BRCA2, levels of penetrance.

    My first appointment with a surgeon is next week including my first screenings. Clearly, I'm praying that there isn't anything to already treat, but am prepared if there is. So glad this site exists.

    PS - I've been prowling for about two months since all of this started and wanted to thank everyone that posts regularly. I realize, if only by reading these posts or watching my cousins, how lonely a world a real cancer diagnosis can be, but I've also learned there ARE things that can be done to reclaim some power. I want to do whatever I can do to keep as much in my control, knowing there are risks and knowing I am always going to be vulnerable (i.e. pancreatic, colon, melanoma) ......

  • Aga
    Aga Member Posts: 77
    edited January 2016

    Hello ladies I too was diagnosed with the PALB2 gene.  Right now going through breast cancer treatment. I'm taking tamoxifen now. I will have a hysterectomy most likely next year and will have to switch my meds. I just wanted to first deal with one surgery at a time. Meaning my breast reconstruction. Then hysterectomy. Just wanted to say hello. 

  • hopeful82014
    hopeful82014 Member Posts: 887
    edited January 2016

    Aga & DC - just wanted to thank you for finding this board and joining the conversation. As someone who had no knowledge of the issues raised by a PALB2 mutation prior to last year, I find it frustrating that so little is still known and understood about the topic and believe that the more of us who find each other, the more support and information we can share. Good luck to both of you.

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