PALB2 mutation
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I also wanted to add to the conversation on PALB2. I did my genetic testing prior to an already scheduled DMX for widespread DCIS (widespread ALH was also found after surgical pathology). I was told that I tested negative, then didn’t think much of it. My sister was dx with IDC and DCIS about 3 weeks after my surgery (both of us mid 40s), and my paperwork was looked at again. I tested positive for a PALB2 variant, but was told that it was “meaningless”. Until my sister’s cancer. After some research, I found that my specific variant is labeled as “likely benign” in the U.S., but as being “likely harmful” in international, large scale studies (multiple sources). My GYN told me that PALB2 will likely end up being grouped with BRCA1 and 2, as far as breast cancer risk - especially for women under 50. And that many more familial breast cancers that are BRCA negative will be found to be linked to PALB2 variants that are currently not thought to be dangerous. Who knows? Genetics are fascinating, but so complex. My sister and I were also exposed to a massive, food borne chemical contamination when we were kids (1973 - 1974, in Michigan). PBB (endocrine disrupting flame retardant) was in the food supply for 9 months. Who knows whether that also played a role. I did end up having a hysterectomy/BSO - I had some tricky issues, but clean pathology.
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lomo, my MO suggested that PALB2 may eventally be renamed BRCA3, since it is the pathway and locator of BRCA2.
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I am interested to hear more from those who were recommended DMX because of PALB2 diagnosis. I am 45 with a PALB2 gene mutation, but found out after I began chemo to shrink my tumor for a possible lumpectomy. Both of my grandmothers had breast cancer, one died from it at age 43 but my maternal grandmother didn't get diagnosed until she was 65 and then never had a recurrence. I have no other known family members with breast cancer or ovarian cancer, but my father has been battling bladder cancer for the past 4 years which makes me suspect that the gene has been passed down on his side. All of this, plus a lack of available information, makes me eager to hear more from others about the current thinking regarding PALB2 and surgery recommendations. Thanks!
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My doctors recommended a DMX from the beginning, even before genetic testing. I had 4 widespread areas of non invasive (DCIS) and ALH. I wanted to get symmetry in recon, lower my future risk as much as possible, and avoid tamoxifen. My sister was dx after me and was told she should do lumpectomy, rads, and tamoxifen. Even with the PALB2 variant. She screens better than I did, and they rushed her through... I think that she would have made a different choice, but her doctors never even discussed mastectomy. (She had 1.8cm IDC, 1.5cm DCIS was found and excised during surgery. She has since had to stop tamoxifen, due to uterine issues. I had hysterectomy/BSO.
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In my situation I had widespread DCIS( found out there was IDC(ER+PR+) in there with surgery) on one side that the breast could not be saved and a tiny lump on the other side(HER2+)
So I met with plastic surgeons and made the decision to go with a double mastectomy. Then two weeks later I got my Gene results back and found out I had PALB2 with a known variant. So was relieved I had the BMX . Then during chemo I consulted a GYN MO who strongly recommended immediate oophrectomy the minute I was done with chemo.
I was told it will be 10 years or more before they understand Palb2 and its implications in cancer. I know that this came from my fathers side but we know nothing about his family history.
You can check out the FORCE website. you can also search for your exact variant in studies. I do not know what the best recommendation is for someone else. My body grew two different kinds of breast cancer with it so I thought it best to take off the breasts and improve my odds with surgery and Hormone Therapy.) Frankly it does suck but its the cards you get dealt
sorry to hear so many in a similar situation.
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Thought I would add my PALB2 story into the mix...
I was DX stage 2B at age 28 in 2012. Only did a single MX and a reduction in the unaffected side. Chemo, rads, hormone blocking etc... BRCA tests came back negative so MO and surgeon never even gave me the option to consider a BMX.
Fast forward to 5.5 years out from early stage diagnosis... 2017 I found out the cancer was in my lungs. Crushing.
This prompted further genetic tests. Initially they only found a BRCA signature but then when we investigated further a pathogenic PALB2 mutation was confirmed through a larger gene panel. It's been a real head-messer to go from always wondering WHY to now knowing exactly why I developed cancer so young.
Medical team and genetic counselors didn't think it was genetic because my paternal Grandmother had BC at 70 and never had a recurrence over 15 years. No other women in the family so it was never on the radar that this could be genetic, although I tried for further tests back in 2015 and was denied. But now my Dad is positive for the mutation after all.
I'm curious about finding others with the same deletions. Mine are complete deletions in exons 9 & 10. I have heard this is common in Eastern European countries. My Dads mother's family was from Czechoslovakia. All we know is that her Grandmother died young and her Dad's sister died young. So it's suspected to be from that line. Back in 2012 the genetic counselors wouldn't look at family history beyond my grandparents though. Frustrating.
Overall I'm relieved to know now why I ended up with this diagnosis. I'm pissed I'm stage IV. I'm also a little angry that it took over 6 years to get this PALB2+ confirmation. I never did a BMX. But if I had known back then I would have. Having said that, I was told that PALB2 tests were only being offered in the last two years. (I'm in Canada so we seem to be behind)
If I knew I was PALB2 before cancer and had the opportunity to take preventative measures I would have done it in a heart beat. I would do anything to not be stage IV in my early 30s.
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Ashlyn
I am so sorry to hear that you had progression into your lungs. Do not beat yourself up for what you could have done looking at your treatment it looks like you did a lot. When I was diagnosed in May 2015 palb2 was really brand new. The geneticist who ran my testing told me it had just been presented in a conference in late 2014. So while they might have known about it sooner they certainly weren't running around testing everybody they could. My testing only occurred after I had already had a double mastectomy because the brca came back in two weeks and the rest came back a month later. I have noticed from this thread that none of the cancer seem to be the same there are estrogen positive estrogen negative triple negative her2 progesterone positive progesterone negative. This makes it difficult to know exactly how this Gene behaves and certainly they need a whole lot more research.
Please post here anytime you need support and do all you can to nurture your body I keep it healthy battling cancer is a tough mean job.
I hope you don't mind if I ask but did chemo the first time knock out your ovaries? There is all this controversy about whether or not palb2 cancer patients should get our ovaries out whether or not we have er-positive or not. In my case they insisted on taking them out because I had such a strong history of cancer in my family.
Stay strong !
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thanks exercise_guru. It was really shitty to be diagnosed stage IV. I knew it could happen even after 5, 10 years etc with ER+. But nothing really prepares you for the devastation. I did EVERYTHING. So no I don't beat myself up. I'm just angry it happened when I was so young.
When I asked for further testing in 2015 I was denied because they didn't think I had enough family history. I'm annoyed that it took my stage IV DX for them to finally test me further. I know it wouldn't have changed much. But I think it may have caught things a little sooner if I'd been monitored closer. Oligio metastasis have a much better outcome than when it's spread further. I believe one day they will be wanting to catch stage IV sooner because the outliers who live the longest often started out with small tumor burden
I did not have my ovaries out. We only learned I'm PALB2 a month and a half ago and we haven't had that conversation again but will. Right now I'm not anxious to do it as I'm on Zoladex anyway and I don't want to stop treatment for the surgery. There is also zero known ovarian cancer in the family. Then again, there's zero cancer really other then me right now too. My Grandma passed two years ago. But not from BC.
There has been suspicion as to whether melanoma is linked to PALB2. My grandma had a melanoma removed on her leg. And one Uncle had stage 0 melanoma on his back. I have also seen others face it with breast and beingPALB2+. Anyone have experience without melanoma too?
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I am a palb2 mutation carrier from Germany and was diagnosed with breast cancer TN in 2016. I got tested because of the medullary features of my tumour and here I am. Had immedeate bilateral mastectomy after chemo in 2016 but now I am suffering from cysts on my ovaries. My medical team does not want me to take the ovaries out before 45. As they say, there is no link between palb2 and cancer of the ovaries. I am 40 years old and scared. What have you been told in your countries regarding ovaries? Thank you!
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I was also told that PALB2 doesn't generally increase your risk for ovarian cancer. I have a strong family history of uterine and unspecified "female cancer" ( you know, back in the old days ladies didn't talk about such things.) I also have the Chek2 mutation, about which they know even less than PALB2. So, they recommended i have a total hysterectomy, plus colonoscopies every 3-5 years. Foo!
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My data would be a bit old because it is from 2015. There was one study that looked at geneology trees of families with Palb2. They did find ovarian cancer in some of the germlines of Palb2 geneology. Ovarian cancer is much more rare and difficult to track. The kind of ovarian cancer that is curable is usually found by accident like in abdominal surgeries by obstetricians etc.
Here is a more review article of the new study since then that is likely guiding the way of thinking of your doctors.
Its interesting because in reading that I am not certain they would have removed my ovaries now but given that I had the PALB2 mutation,ER+ Breast Cancer along with my moms sister dying of ovarian cancer they strongly recommended that I have surgery to remove my ovaries right after chemotherapy. I has had a very negative affect on my health so if you would not benefit from ovary removal estrogen is a good thing and it would be great to be able to keep your ovaries.
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Thank you so much for your answers.
Exercise guru - which side effects do I have to expect? And was your mothers sister also a palb2 mutation carrier?
Love, Desiree
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Good question! sorry I forgot to include that information. After I was tested and came back positive I asked my mom to run genetic test on all known breasts and ovarian cancer Markers because I have five sisters and two nieces as well as a daughter of my own. She came back negative for everything but cancer is rampant on her side of the family 4 of 6 of her siblings have had cancer(ovarian, pancreatic,lung, no breast cancer). The geneticist told me that palb2 definitely came from my father but we have no history of him as he passed away and he was an only child. None of my sisters have been tested and I'm not sure they are an emotional place where they could deal with increase screening which is unfortunate.
The decision to remove the ovaries in my case was determined because of the estrogen positive tumor as well as the palb2. The mo who recommended the surgery told me that it will be 10 years before they know enough of how this Gene behaves. In my case he felt so strongly that he insisted on the surgery 4 weeks after completion of chemo.
The decision to have the surgery was one of the hardest decisions I ever had to make and I will never know if I made the right decision in most cases it's likely they would have put me on Lupron anyway and I will be on tamoxifen or Arimidex for 10 years.
The doctor told me Lupron would not protect me from ovarian cancer and in my case he knew that he could cure me today but he was very concerned because of my mom's sister and the gene that the screening for ovarian cancer is so poor it's likely if I did get it it would not be caught in time.
I can't say what I would do if I were in a different position because no one knows until they're there but the side effects of surgical menopause are pretty extreme. I have significant hot flashes, memory loss, extreme vaginal dryness, insomnia, fatigue, general bitchiness, lack of sex drive and Bone issues. I feel like the surgery aged me 20 to 30 years so it's important to take risk vs quality of life into account.
Breast cancer sucks
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You are perfectly right, breast cancer sucks. May I ask you, how old are you?
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I was 42 at diagnosis and oophrectomy that was 3 years ago I am now 45. I too wanted to wait a few years before getting a hysterectomy but I really trusted the doctor that I met with he was wildly experienced so I didn't delay until I was closer to menopause.
Because I have 5 sisters , two nieces and my own daughter I pray and hope that the reason I got Breast Cancer was not related to genetics and they will escape that diagnosis.
I have radically changed my diet though. I eat a flax seed muffin or up to 25 grams ground flax a day because of a study I read. I also grow Broccoli sprouts in a jar and eat them daily. I added cooked white button mushrooms to my diet . Oatmeal because of my liver enzymes. I am also considering trying soymilk again because I switched to silk protein nutmilk on my MO's recomendatoin but then I started watching and reading about phytoestrogens and I am thinking about it.
I met with a dietician and she strongly recomended I try B12 for my neuropathy ( that developed after my oophrectomy/hysterectomy surgery). It turns out I also have the MTHFR mutation and I was very low in B12 and Folate so now I take the methylated forms of that which has strongly helped. I also have pretty serious liver enzyme issues ( I am sure that is related to the oophrectomy/hysteroctomy) they did a cat scan and it is a slugish fatty liver not cancer thank god but that has changed my forward trajectory.
I was always a pretty clean eater as far as lean meats and better grains but now I am concerned about what my quality of life will be in 5 years( or if I beat this breast cancer thing after all). I have studied a lot of articles on nutritionfacts.org and other sources to decide what is worth doing. I wouldn't have been driven to take such radical diet modifications (I am seriously considering vegan because of the neuropathy) but I have had a pretty extreme exit from breast cancer treatment and I really am quite young so now 3 years out with a lot of lingering problems from treatment and a bad gene I decided to try and see if it would make a difference. Its not a difficult change for me to make as I like all the foods above its just a matter of making sure they are part of my menus and in my lunchbag and breakfast meal.
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Just received a letter from my genetic counselor. My VUS for PALB2 is now NoSignificance!
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This is a great thread. I do appreCiate the information on pancreatic screening and genetic counselor. I am 45 and was diagnosed with triple negative cancer last February. I had the gene test and i am positive for the palb2 gene. My moms two aunts had died of breast cancer and I believe a distant cousin had breast cancer. No breast cancer on my dad's side although his uncle did die of colon cancer. I was treated with chemo and then I had a double mascectomy with reconstruction I just had my exchange a few weeks ago. I have a son and a daughter and was told to have them tested in their early twenties. The palb2 gene also increases breast cancer in men. My sister and brother will need to decide if they want the test. I was told by my oncologist that the gene does not increase risk for ovarian cancer not enough studies have proven this.
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I'm checking back in with a final treatment update. I'm 46 now and went into chemopause about a month after I started chemo back in Nov. 2017. My OC and I decided to wait to have the conversation about medication until after I was done with radiation and he felt that since I had already started to go down the menopause road, anastrozole was a better long duration treatment choice. However, since I wouldn't be "officially" menopausal until 5 years with no period, he said I could get a shot every three months to ensure that I was in menopause or I could have my ovaries out. This was the nuclear option, but since I knew that I'm was never going to want to have another baby, and because my dad has liver cancer, I wanted to take everything out that could go bad...even if there isn't a strong link. In doing some family research I also found that one of my great aunts died from surgery related to an ovarian cyst, so that was enough info for me to decide to go ahead. My only question was whether or not to have just my ovaries out or have a hysterectomy as well and I discussed this with my gynecologist who performed the surgery. Her feeling was that with my PALB2 and the fact that anastrozole can cause issues with your uterus, she recommended having the works removed. The surgery was actually the easiest treatment I've had and I have had no obvious side affects. I know that there isn't 100% guarentee that they remove all of the tissues that can turn cancerous, but I definitely feel better having had it all removed.
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Hello, recently diagnosed with a pathogenic palb2 mutation after retesting after a relative tested positive for palb2. I was referred for mrcp for pancreatic screening (not aware of any pancreatic cancer in the family) and now will be following up with an endoscopic ultrasound with fine needle aspiration if necessary for a stricture that needs further evaluation. Anyone have experience with this? Thanks in advance!
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Can you explain what you mean about retesting? Did your original test fail to detect it?
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Sorry... to clarify my original genetic testing in 2014 was just BRCA 1/2 and so I was retested with an expanded panel.
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Got it. Thank you for the information.
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I was told pancreatic screening is very rare. It is a condition that is very difficult to diagnosis and often the screening leads to false positives and cause Biopsies that have their own medical challenges. Ovarian Cancer is also something that is diffucult to screen for . Often Ovarian/Pancreatic Cancer is found by accident. If I were in your position I would write down all of my questions and make sure I am understanding the level that this screening is necessary and make sure you know what this biopsy will tell and if there is a targeted location. I was recommended for a liver Biopsy but it was only to check if there was fatty liver. There was nothing on the ultrasound that targeted biopsy just deposits. I elected to turn that down.
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thanks guru! I did ask if the eus was necessary (I think he only intends to biopsy if he sees something concerning, but will do it during the procedure rather than schedule another, if that makes sense). He basically said he wouldn't recommend not doing anything, bc the pancreas is such a "bad actor" they want to make sure they get stuff as early as possible (I take that to mean precancerous lesions). For me, I felt I'd rather move forward. I'm pretty confident it's nothing cancerous (not aware of any family history of pancreatic cancer and typically it strikes in someone's 70s) but since I felt confident it was nothing when I felt a lump in my breast, I figure I should have probably get it checked. (Ps also found out I have a fatty liver too, though nobody seems too concerned about that. I hope you're not having any issues with that!)
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Hi, just wanted to come back and post a quick update. The EUS was easy and he didn't need to do a biopsy. The odd thing was that he gave me a finding of early chronic pancreatitis.... I'm waiting for a follow up conversation or appt with him to find out more. I'm a bit confused about the diagnosis as I have no symptoms, don't smoke, and am not a drinker... I'm also not that old... BUT I am relieved that there were no malignant or precancerous findings!
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on another note, a recent study came out on palb2 germline mutations and cancer risk:
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Hyphencollins, Please let us know what they end up recommending for you. My brother and I both have had the EUS screening several times. Mine have always come back uneventful but my brother's last one also showed mild chronic pancreatitis. He didn't have any symptoms or drink/smoke either so we were pretty surprised as well.
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Thanks Weety! I hope that your brother is doing well. I'll post back when I know more. Its just so bizarre...!
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I was diagnosed with palb2 mutation in February. We were going on cruise March 8 didn’t want to worry my husband so I went to genetics appointment solo. We got back from vacation March 15 have been quarantined so haven’t been able to see breast genetics specialist My mom got breast cancer at 37 and again at 40. Died at 40. I am 57 this year. Agonizing over what I’m going to do. I have not been diagnosed with cancer tho thank God.
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any information would be awesome. I’m stressing out but not sure what to do from here.
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