PALB2 mutation
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Thanks for joining our thread it is so helpful to pool information and to find others who are dealing with this gene.
I finished Chemo and had my hysterectomy/OOphrectomy. I am home recovering now. I did decide to remove my uterus but the reasons are not very concrete. Here is one pdf I found dealing with hysterectomy vs just an oophrectomy Link-pdf
I had a family history and based on my Gyno MO recommendation I decide to go ahead with it. I actually did the surgery at the same time as my TE implant swap. The recovery is taking 4-6 weeks but I am relieved to have it behind me.
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I was diagnosed with stage one idc in January at 41. I have VUS of palb2. My mom has done lots of digging into family history and I'm sixth on her side (that we know of) that has had breast cancer. There is one, possibly two pancreatic cancers. There is a large part of the family history that is unknown because much of the family has no contact with one another. The breast cancer is prevalent in four generations I contacted Mark at PALB.org and he requested me to send my genetic test results but he felt that my variant of palb2 may not be the cause. He mentioned that it could be another gene I did the myriad my risk genetic panel. I wish I knew for sure my risk for another cancer. I surely hope that more comes out about this gene. I did contact FORCE and one of the ladies told me that I may be a good fit for their study and gave my phone number a few weeks ago, but so far have heard nothing about their family study. I just recovered from total hysterectomy because of chronic large cysts on ovary, hyperplasia and to prevent the problems that 10 years of tamoxifen can cause. Hugs to all!
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Hi ladies - I don't have any known mutations, but my family's BC history in terrible. With a low oncotype I figured it would be recommended that I do five years of HT. My onc says tens years due to family history of BC and other cancers. What are your oncs saying about family history and/or known mutations and years of hormonal therapy even with a low oncotype. Thanks so much for any input.
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Farmerlucy, my MO said I have to do 10 years of tamoxifen. I am post menopausal now at 42 since the hysterectomy, but he wants me on tamoxifen versus AI to protect my bones and heart. I have a feeling that if I want to switch to AI in five years though, he would be ok with it. I also have extensive family history.
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My story is the same. 10 years of Tamoxifen or switching to AI at some point. He would probably have left me on AI for 10 years but the side effects were too extreme. I also had a hysterectomy and OOphrectomy because of the family history but that was more because they have no idea what PALB2 does so they chose to err on the side or caution. I worry a lot that I failed at AI. I tried both Arimidex and Femara. I chose to go on Tamoxifen instead of trying Aromosin until I can get the feeling back in my hands and somehow function. I have lasting side effects from the AI. I suspect I will be on HC for 10 years.
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Thanks ladies. It does sound like family history/known or unknown mutations are pushing docs to the 10 year recommendation. Guru - I flunked Femara and Arimidex too, and my onc said Tamoxifen for ten years is fine. It's all a little disconcerting because I believe the recommendation was five years when I first started Tamoxifen. Oh well. Thanks again.
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Myself was tested postive for the palb2 gene got breast cancer stage2 multifocal. One triple negative 2 centimeters the other 1 cm. Her2 nu had a mastectomy and in chemo now, did not get the other breast off because test did not come back in time when surgery was being performed. So I will do monitoring with mri...does anyone else have more info about this gene?
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inherited cancer.net. ICARE is an inherited cancer registry that is recruiting volunteers for research into palb2. I joined and filled out info and consent for them to use my tumor specimen if needed for their research since there is so much unknown. I do know the new guidelines recommend yearly mri for us.
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Just curious if your genetic test shows that you have PALB2 VUS should your children be tested? My genetic counselor says that majority of the time this just means there is something there but they don't know what it is and it's not the same as testing positive.
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I was told that the result doesn't change my treatment plan because they don't know if the VUS puts me at higher risk or not, but in my mind, because of being diagnosed at 41, it does. This is why I have joined two studies to help them figure it out. If I had children, I would want them tested. They recommend for younger people in family that tests positive, to start observation 10 years ypunger
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I would thoroughly discuss the question of testing offspring with your genetic counselor before presenting it to them as there are many issues involved. Particularly with a VUS rather than a known deleterious mutation I think you can take the time to work through this carefully.
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DC - I am so glad to read your post because I, too, am PALB2+ with NO cancer, but I am really considering preventative bilateral mastectomy. Currently, in 2017, it is the most aggressive recommendation for someone like me with my family history and oldest sister being diagnosed with BRCA at age 39.
So far in my genealogical investigating, I have discovered there has been cancer in 5 generations of my family. My oldest sister was diagnosed in Feb 2017 with Stage 3, Phase 3 BRCA, nearly triple negative. A first cousin, a second cousin, and two great aunts have all had breast cancer. An uncle had a 13 month battle with lung cancer at 52 years old, and although he smoked, I'd bet that he had this same mutation which just put him at an even higher risk. My great x2 uncle and all three of his sons had some kind of cancer (prostate, colon, leukemia). My great x3 uncle died of prostate cancer in the 1920s. I'm still on the hunt for more death certificates of my ancestors in that line of the family. Kind of a fascinating investigation to keep my mind off what I could really be facing.
I am only 34, yet I have many of the exact same sentiments as DC:
"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."
I think there are several females in my family who are wanting to be tested for just PALB2. At Invitae out of San Francisco, the cost is $200. However, if someone had a full-panel test through Invitae and tested positive for a mutation, immediate family members can be tested for free for just that mutation IF it is done within 90 days of the initial full-panel test. Of course they just passed this rule last week...So, my other sister will not have to pay for her test, but my cousins will.
Nevertheless, I am very anxious for the results of my two cousins who have had BRCA and also for my sister's and cousins' results, as well. Hopefully my other sister won't have the mutation, but time will tell...the two week wait time can't pass soon enough.
So the question remains, am I crazy to consider a preventive mastectomy at 34? I certainly don't want to be thrown into menopause by taking Tamoxifen, I don't want the worry of a lifetime waiting game, and I certainly don't want to put my body, mind, and family through cancer when my pain and emotional tolerance is close to none. Also, given the current state of healthcare, education, and politics in our nation and Iowa (where I live and teach), the practical side of me says the time to do this, financially, is soon while I have a good job and insurance.
But, the bottom line is that going thru an irreversible, major surgery must feel right to me. I just have so many conflicting thoughts and emotions going thru me about it all. I am getting a second opinion to assess my risk -- higher than 58% says the doctor of both me and my sister. And of course, my sister says that she would have had a preventative mastectomy had she known her risk.
Thoughts and opinions, please. Sorry for the long post.
Thanks.
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LMS, I kind of wish I had been given the option for mastectomy. I don't think I was ready back then for it, but having over a year and a half of dealing with the anxiety and worry, I would be ok with it now. I am 8th (that we know of) on moms side to have breast cancer. There are so many other cancers in the family like yours such as liver, colon, pancreatic, lung. I am the first person to have testing . I have entered the prompt study and sent info to PALB interest group since I have VUS and my oncologists won't change my plan of care because they don't know if this variant puts me at higher risk for more cancer. The good thing about you knowing is that you can have more surveillance at least. It's such a hard decision to make. If i have any more complications in the future, think I will push to have them both off!
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LMS : I am simpathetic of your predicament. My MO told me it will be 10 years before they totally understand PALB2 and it is so new they need to research it more. I also am a mother and I wouldn't trade that for the world. Having gone through both experiences( double mastectomy and motherhood) I personally would not put off having children for a BMX. I would pursue the screening until I was done having children. I say this because a DBL Mastectomy is a year long experience and a huge lifechanging emotional rollercoaster. It is not what people would expect. I have a colleague who has BRCA2 and her children are in school. She decided to go through DIEP reconstruction. So now cancer and all that side stuff. She really had a hell of a year. It was not a simple thing that is for sure. She lost a sister and a mom to BC and it was a good time in her life but tough for her. If you were to go through with the BMX you may not be able to get your insurance to cover it. I am not sure about that. Its a crazy amount of money I think my two surgeries together were way more than a simple Breast implant surgery. I am guessing 40 grand ( I did TE and then replacement not DIEP) but I would have to go look. Even with a BMX there is no guarantee with Palb2 as there are other cancers associated with it and frankly they are all half guessing right now.
On the parenting side. It might take a long time for you to conceive and you you might want more than one child. I had children at 32 and 34 and personally I think that was a perfect age. Perhaps you could consider screening until you are 40. The joys and ups and downs of starting a family and experiencing all that has to offer is just awesome.
FWIW my BC was caught with screening and I haven't met any women online with Palb2 who developed young BC like I have read about in BRCA1. That isn't to say there aren't younger women its just a rare gene. We all have to play the cards we are dealt and yes it is a gamble either way. I believe that you should search your heart. Yes the screening is annoying but once they have a baseline 3D mamogram they can watch changes in your breast if they happen. I am not saying its unreasonable by any stretch I think it is worth getting the information but I remind myself daily that I lost my father from a car accident. We have risks we have to face everyday and the known vs the unknown can tend to consume us. It might be worth talking with women ( see the FORCE website) and women who to find more.
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I have the palb2 gene did get early stage breast cancer, had a mastectomy and now currently in treatment, I had multifocal tumors, one 2.7 cm triple negative 1 cm her2nu I did not get my genetic testing back until after my surgery so I still have my other breast, now I did get my mri on it last week and it is healthy, What should I do take it off after chemo is done or just have it Monitored the rest of my life. I'm 53 years old now...just going through Another surgery Scares me to death...
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did you get breast cancer with the palb2 gene? And what kind are you getting mri now?
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Hi Debbs74,
I just found out I am PALB2 positive. I am similar to you, early stage, had lumpectomy though not mastectomy, chemo and radiation. What did your doctor recommend? I am meeting with breast surgeon Monday to get her thoughts and meeting with gynecologist in September to discuss prophylactic surgery. I wish I had been tested before lumpectomy as I would have chosen BMX. Also was advised to meet with gastroenterologist who could follow me for pancreatic. Surgery for me was much easier than chemo and I don't know if I want the anxiety of scans every 6 months. Also am worried about radiated breast as they sometimes do not do well with reconstruction.
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That is a tough break finding out about Palb2 AFTER a lumpectomy. My situation would have been similar but because I had double breast cancer they couldn't save my right breast as it had DCIS throughout it ( in surgery they found IDC) so I had to opt for a BMX. I too found out about Palb2 around 3 weeks later.
I can only share my story. They referred me to an OBGYN and when he saw that I already had a ERpositive tumor wanted to have prophylactic surgery 4 weeks after chemo. He had performed them for women who were not breast cancer patients but had tested positive for Palb2.
As for the BMX. There must be more data out as in 2015 my MO had barely heard about PALB2 and a BMX would have been recommended but not pushed too hard. I am the first in 5 sisters and a mother or aunt to have Breast Cancer. My mom was tested and we now know it came from Dads side ( not much family history very very little and he was an only child)
I don't want to scare anyone but with Breast Cancer I had two different kinds ( see my signature below) three kinds if you count DCIS. I worry still to this day. and I would have gone back and done a BMX definitely if I could have avoided radiation. though I worry about if the chemo did its job and sometimes wonder if I should have atleast done a radiology consult. It sucks but I do believe they are going to find Palb2 is in the same category as BRCA2.
That being said I personally wouldn't put off important things in my life to do a BMX I would have screening and find a time that you feel ready and able to handle such a major life change. I have friends who are BRCApositive and were screened until they were ready. Many did BMX or ovaries. Very few do I know who did them all at once. I mean life does need to be lived ... we can't all climb in a corner. I wish they knew more and could give us more concrete understanding of our risks.
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I know this is going to like a stupid question, but what is the difference between testing positive for PALB2, having a PALB2 mutation, or having a PALB2 VUS ? Is it all basically the same??
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Thinking Positive -
We ALL have PALB2 genes. SOME of us have deleterious mutations in that gene. SOME have a VUS - Variant of Unknown (or uncertain) Significance.
Deleterious mutations are those that are KNOWN to cause issues. VUS may or may not cause issues - generally, less is known about them AND what is known generally does not indicate reasons for concern.
Personally, I wouldn't act based only on a VUS, unless it would be to take tamoxifen or something similar. I'd certainly schedule an appt. with a good genetic counselor to discuss options.
With a PALB2 mutation I wouldn't act immediately but I would sit down with genetic counselor, oncologic surgeon and possibly OB/GYN and hash out the risks. I definitely would NOT rush to schedule BMX unless something in family history was also indicating a need to act sooner rather than later. Again, I'd probably inquire about using tamox. or similar in a prophylactic manner.
Whether BMX or other is advised depends on a number of factors including family history, personal history of cancer and age. If one's already had a lx. it's still possible to have a BMX later if indicated.
All of this is based on my own discussions w/health care providers. Yours may have a different take.
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hopeful that is very clear and matches what I have been told. For example my sisters may choose to not be tested but if they did I do not think they would choose prophylactic Mastectomy or oophrectomy. Since I am the only one in my family ( sigh so far) who has a diagnosis of BC.
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I agree, I wish there were more statistics on PALB2. It has been 2 years since you found out and from what I have researched there still isn't that much info. I will see what my surgeon thinks, just want to minimize recurrence as much as I can. Thanks so much for your reply:
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thanks for the info hopeful. Cleared that up for me. I am already taking letrozole. I guess I won't add it to the list of things that I worry about things !!
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We have a family history of breast cancer. After my aunt tested positive for PALB2, they wanted the younger ones were also tested. As far as I know I'm am the only one to test positive. It has been 1.5 years so far and I have had only one scare. They have me rotating mammograms and MRI's every 6 months.
I would like to understand more about this gene but can not find out a lot other than it is a new gene and they are still learning about it.
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I do no have a cancer diagnosis. I have a very strong family history of BC in my family. My mom, aunt 1(diagnosed at 39), aunt 2 (died from BC), grandmother, great aunt, & great grand mother have all had BC at least once. I just found out I am PALB2 positive like my mother. Two doctors have told me they recommend the Prophylactic double mascectomy (sp?), but I’m just not sure. I am 36. I’m going to pick up some info from my doctor tomorrow
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Did any of your doctors recommend preventative surgery
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Hi, jwhittle,
I was diagnosed with breast cancer at 38 years old. Had a single mastectomy and it wasn't until about 5 years later that I found out I was PALB2 positive. It was then that my doctors recommended removing the other breast for prevention. It's a little different in that once you have a cancer, you are at a higher risk for a second cancer, but it is still worth considering in your case, especially with the intensity of the gene in your family.
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I am in a similar situation. I am 36 with no diagnosis.
I have a very strong family history of BC as well. My mom, aunt 1(diagnosed at 39), aunt 2 (died from BC), grandmother, great aunt, & great grand mother have all had BC at least once. I just found out I am PALB2 positive like my mother. Two doctors have told me they recommend the Prophylactic double mascectomy (sp?), but I'm just not sure. I'm going to pick up some more info from my doctor tomorrow.
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Chiming in, to be part of the ongoing conversation....
PALB2 mutation for me, with absolutely no known family history of pancreatic or breast cancer. Turns out my dad has the mutation as well.
BMX, chemo, now rads. Meeting with a gyn-onc in a few weeks to discuss oopherectomy or not. Plan with MO as of now is to start lupron shots now, then go on an AI once I’m done with rads (I’m pre-menopausal, but strongly ER+ and have lobular carcinoma).
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