Anyone else get tested for PALB2 gene mutation?
This is an older thread, but I'm wondering the same thing. Apparently this gene is related to pancreatic cancer, prostate and breast cancer. My dad was just diagnosed with pancreatic cancer. My BRCA tests both came back negative a few years back and that was where they stopped. But now with my dad's diagnosis (as well as prostate cancer prevalence in the men on his side) they are thinking of doing this PALB2 test now.
Nannababy, did you ever get tested? Anyone else out there?????
I forgot to come back on this thread to report that my dad was positive for a mutation on the PALB2 gene. I go for my results tomorrow. Breast cancer risk is up to 4x higher with this defective gene. I guess another surgery (good boob) will be in my near future. SIGH. ..
After 6 months, I finally got additional testing back and found out that I have the PALB2 mutation. The genetic counsellor said that a second mastectomy is not recommended, but that a yearly breast MRI is sufficient. Early detection is better than the risks of surgery. I have a family history of breast and pancreatic cancers. The counsellor also set me up with a oncological gastroenterologist for pancreatic monitoring and an oncological gynecologist to help make a decision about whether to keep the ovaries.
I never came back to report my own results on this thread. I tested positve for the PALB2 gene as well. I am having a prophylactic mastectomy today. My doctors seemed to think since I had already had BC at a young age, that my risk was quite high for another. I am also being followed by a gastroentologist as well as my regular oncologist. I had a baseline MRI of the pancreas on Monday and should get those results next week. I am also scheduled to have an endoscopy soon. I had already removed ovaries back in 2010. My onc seemed to think we need to treat this the same way he would handle a BRCA2 gene.
cyano, we will have to keep in touch about what new stuff comes out about PALB and the recommended monitoring.
weety - all the best with the surgery and I hope you have a speedy recovery.
I was diagnosed with BC at 41 so not particularly early. My concern with removing my ovaries is that I have severe colitis (in remission now for 3 months) and have osteopenia/borderline osteoporosis from malnutrition due to the colitis. I'm hoping to be able to rebuild the bone before menopause by lifting weights and getting plenty of calcium.
I'm in central CA and drive down to LA for testing and treatment.
Instead of starting my own thread, I'm going to just add to this one. After testing negative for the BRCA mutations 3 years ago when I was originally diagnosed with BC, I've been genetically tested again with the "everything but the kitchen sink" test. And it turns out I have a PALB2 mutation.
I have a very strong family history of BC, but no pancreatic cancer (to my knowledge). I guess I should have my other breast removed, but I'm unclear as to what kind of monitoring I should do for my pancreas. And what about the ovaries? It sounds like regarding an ovarian cancer link, they're still not sure? My oncologist has some expertise in genetics but she was mostly focused on the breast cancer link. Perhaps I should talk to a genetic counselor…. Any advice anyone can give would be appreciated - thanks!
Not sure if you have seen a genetic counselor yet, but recommend you do. I am PALB2 + and do not have a cancer diagnosis. I am investigating what is recommended as preventative . So far, I have been advised to focus on the breast first. Then will most likely pick up yearly endoscopy to monitor pancreas and as of right now, they are not worried about the ovarian link. Not sure about the link and risk increase.
My sister, who had DCIS, Stage 1, Trip Neg had a BMX and prophylactic ovary removal and will start endoscopy this year based on her geneticists recommendations.
Make sure you check with insurance. I can not get them to approve anything for me so far except for surveillance. Although, my sister has not had a problem having had a cancer diagnosis
VAT - Just curious - does your sister have the PALB2 mutation as well? Any thoughts about other members of the family that may have had it? I am trying to get the expanded testing( BRCA neg) but so far I haven't had it. Mainly want it for DD sake. Seems like results can be quite confusing re: treatment for some of the gene mutations.
Thanks so much!
Farmer luckyYes, my sister has the mutation. After her diagnosis, she decided to get tested for her sisters and nieces. Once she came back +, my other sister and I were tested. Both of us wanted to do the testing for our DDs as well. I came back +, my other sister -.
No one else of an older generation has been tested and my family tree is very small. No breast cancer in my parents generation, but a great aunt in the previous generation.
As far as my DD, the advice I have received is that she can wait until she is 25 to decide if she wants to be tested. Whether she decides to test or not, hoping by then (7 years from now), she will be able to get coverage for mammo, MRI surveillance even if she chooses not to test and starting at a younger age based on my result.
Also, make sure if you do decide to test you check on coverage first. My dr. said I was qualified to test based on my sisters diagnosis< 50, trip neg, palb2+. Yes, I was qualified medically, but insurance did not approve and have fight pending on an $1800 bill for the test.
Thanks for that great info VAT! Good luck with the insurance approval.
Thanks for your response VAT! I've made an appointment with a genetic counselor. I'm sorry to hear about your insurance fight - that's just crazy. I was told that medicare would pay to have one of my parents tested (as there's BC on both sides of the family and then we'd know which cousins to tell to get tested) but my parents' doctors say they won't. One doctor quoted the out of pocket cost as $400, the other said $1000. Hope you win your appeal VAT.
mamabee - My dil's mom is brca1 positive. When ddil went to get tested it was around $400 since they knew specifically which gene to look at. Thankfully she was negative.
I recently completed a genetics test, it came back positive for PALB2. Not entirely sure what this means besides additional MRIs and Mammograms since I have had breast cancer already. The research regarding PALB2 is small in reference to second breast cancers and its link with ovarian, prostate and pancreatic. It seems like you're at an increased risk for pancreatic if you have a family history of it - nobody in my very large family has had that. I'm more worried about a second breast cancer and ovarian cancer. I have always contemplated a mastectomy but I'm not sure if that's necessary since I had a complete response to my chemotherapy.. but that is in reference to breast cancer recurrence... I don't think it matters what my response to treatment was in reference to a genetic mutation and a second breast cancer.
ugh, it sucks to have this genetic component but it makes me at ease to know why i got cancer so young. i guess i'm just utterly afraid of going through this again.
I'm 44 and do not have a cancer diagnosis/history but tested positive for PALB2 just before Thanksgiving upon the suggestion of my genetic counselor given my family history. Mom and aunt with breast cancer--currently waiting on my aunt's results for PALB2 as she had triple negative BC the first time and was BRCA-. Mom and younger sisters have the appts. on the calendar to get in. Have ovarian on both sides and possibly one case of pancreatic cancer however it was so advanced in my grandfather I don't recall what the origin was. Since I've had 13 core-needle biopsies over the last 15 years as well as annual MRI/Mammogram I am on the path for PBM in April though there are days still where I doubt myself and choice. I think I'm more focused on what could all go wrong after PBM and reconstruction (expanders to implant) and not looking at the relief I hope to feel knowing this is one less risk factor to worry about. I'd be curious to hear more about anyone else with PALB2 and without a CA diagnosis. Love the FORCE website but not a lot of PALB2 discussion yet.
@cohockeymom if you can be sparred the hardship cancer creates, i recommend you do everything in your power to prevent it. although its at a 20-50% increased risk, the odds are seldom in our favor. i'm in that group and chemotherapy makes me wish i never have to hear the word cancer again because of what it did to my body, my life, and my psyche. remove the breasts and know you are lucky each and every day
Ladies, sorry to see you hgere but glad you found this forum to discuss your situation.
You may find reading these articles from our main site that may shed some light on PALB2 for you.
We hope that this helps in your difficult choices that you need to consider.
I am PALB2 + and do not have a cancer diagnosis. I have been researching and visiting genetic counselors and Breast care doctors and surgeons as well as plastic surgeons. It took a while, but I have come to the decision to have the PBMX. It is a very individual decision and what you are comfortable with. I have only been doing increased surveillance for a year and I am over it. I am sure some can monitor every six months and have a great quality of life. For me, the worry is always there. Also , I know I have the mutation because of my sister's DX. She gave me the gift of knowledge. I feel like I should use it to prevent cancer
@runningcello and VAT--THANK YOU for replying back with your thoughts so quickly! I feel like I know what I need to do which is why I just keep moving forward with scheduling my appt. and surgery but it's my inner "Pollyanna" (love that movie!) that thinks I should be in the 55% group that doesn't get cancer (my risk was assessed at 45%). It's hard to feel like I need to justify what I am planning without having a diagnosis based on statistics and some of my close circle accepts this easier than others. My aunt who is only 10 years older than me and has gone through two diagnoses of breast cancer has said if she had the option to just have the mastectomy and not deal with the chemo should would do it a thousand times over and with this knowledge I should take comfort in knowing I have been given a choice and some days that is comforting--others overwhelming. I have not mentioned any of this to my two sons (13 & 11) and when I do it will be without mentioning the gene mutation as my oldest is anxious enough and knows enough about genetics from school that I fear he would always worry about what this means for him. No sense in bringing that part up until they are at an age to get tested and therefore hopefully we will know more about the risks. Thank you to the moderators for linking the research as well. I think I am in the group that should step away from the computer as I read every research study/editorial etc. I can find daily on PALB2 and could probably teach a course once I'm done ;P. Grateful to have this forum to just vent with others who are in the same situation--thank you ladies!
@VAT and others- My aunt came back + for PALB2 which means my mom is as well by default since we know it is on that side of the family. PBM scheduled for April 13th and BCBS said as long as it is "medically necessary" I'm covered. Lots of insurance companies clearly state BRCA status warrants but not many about other gene variants though in the listing of family history items to determine if it's medically necessary, they are looking for the same things to explain a hereditary pattern--i.e. number of first/second degree family members with breast cancer or how many with ovarian cancer etc. My question is has anyone with PALB2 and without a personal cancer diagnosis had a PBM covered by insurance or what issues came up? I've sent a note to my contact person with the breast surgeon and plastic surgeon because my biggest fear is now that I am mentally and emotionally ready to do this that it may get denied at the 11th hour. Thoughts?
You are wise to check on the insurance. Although I think your family history should be enough to qualify you and the PALB2+ will only add to your case. I have insurance through the military and their policy is not as quick to adjust to new research as private insurance companies. I had my surgery scheduled and it was canceled four days before it was supposed to happen due to insurance denial. It was devastating after mentally preparing myself. I am now waiting on an appeal.
My BS and PS thought the insurance approval would be a non issue so I did not investigate the insurance company policy and make any inquiries. Lesson learned. VA
I hope you are able to have the surgery. Prevention is better than cure.. I think the insurance companies should consider the financial responsibility regarding a potential future diagnosis of cancer that can cost hundreds of thousands of dollars while a surgery can only be no more than 20-30,000.
ugh. insurance just bothers the heck out of me. they don't care one bit about your well being or health.. just money.
I hope you will never have to endure a positive diagnosis.. may you always be cancer free
I wish you could talk to my daughters . I'm PLB2 too. They are being told to get a PBM TOO. MY ONCOLOGIST AND GENETICIST SAID A PROPHYLACTIC OOPHORECTOMY (ovary's removed) should be done To
please let me know Cohockeymom how your surgery goes. Prayers for you
runningcello I agree totally about insurance. Ugh!
I thank God I have great insurance though. Without it - can't imagin
Thanks Mrygolds13! Love the name by the way as my "job" growing up was seeding/transplanting marigolds for my dad's greenhouse for 10 cents a flat ;P . Still a go for surgery Monday the 13th and mentally as ready as I could be until one of my other Aunts (my mom is the oldest of 8) tested positive for our PALB2 mutation (3362delG) and yet she has never had any cancer, breast biopsies or any issues. Muddies the water for me a bit as it is much easier to feel 100% sure of your preventative surgery when all others that are positive in the family have been diagnosed with breast cancer. Of course my mom reassures me that I am doing the right thing as this Aunt has not had the numerous biopsies I have had and this is a "small price"--relatively speaking--to pay in return for peace of mind. I guess with any major life decision there will be times where you wonder "what if" and made a different decision. This Aunt also contacted my grandmother's siblings and of the 10 of them, no one had ovarian or breast or pancreatic cancer, so if the gene comes from my grandma, which we assumed it did, this at least gives me more peace of mind to wait on any ovarian surgery. New article out yesterday in Journal of the American Medical Association looking at the details of WHERE the genes are damaged for BRCA 1/2 and how much of an impact where the damage is and effect on breast/ovarian cancer risk. Can't wait for research to better assess risk based on specific gene mutation/location.
Hockeymom - Oh, yes, the good old days of child labor in the greenhouses... Your comment brought back lots of memories.
You also commented "New article out yesterday in Journal of the American Medical Association looking at the details of WHERE the genes are damaged for BRCA 1/2 and how much of an impact where the damage is and effect on breast/ovarian cancer risk. Can't wait for research to better assess risk based on specific gene mutation/location."
That's a fascinating concept - it will all come too late to make our decisions any easier but it's really intriguing to think that it might be possible one day to know just where to focus one's screening efforts and what organs are not at increased risk.
Good luck with your surgery next week.
Will be thinking of you on Monday. I know it was a difficult decision, but the peace of mind will be worth it. Take care. Hope to be joining you soon. Still waiting to hear back from my insurance appeal. VA
Well my surgery was on the 13th and it was miserable for 3-4 days afterward. The surgery was much longer than expected--about 7 hours--and I had a terrible time with the whole pain/nausea cycle. My last drain just came out yesterday--I've had 2 fills and up to 400cc which may be where I say I'm done and overall feeling so much better than I did two weeks ago that I can't help but be giddy about it! Pathology was clear though I think I would have been surprised if there was something but happy nonetheless. Haven't seen anything from insurance yet so fingers crossed on that note. I'm going to post these next questions more broadly too but I'm just curious what the minimum amount of time from final fill to implant would be and how long before my nipples recover? If yesterday was my last fill and I schedule my exchange surgery for mid-late June, it's clearly 6-8 weeks rest from final fill but still only 2-21/2 months from my mastectomy and some women have said it's a minimum of 3 months post mastectomy--thoughts? Thanks Ladies!!! Hope all is well with you!
Congrats on getting through surgery! I had 200 at Mx and one more fill of 150. My PS put in 421cc final implants. She waits four months for exchange.My friend just had recon and her PS waits 60 days. No nipple sparing here so can't speak to that.
I am 42 and diagnosed with double breast cancer. I qualified for Genetic testing through AMBRY genetics for the whole panel they have a 100 maximum out of pocket charge even if your insurance doesn't cover it. I came back PALB2 gratefully I had a double mastectomy because I didn't find out the genetics for PALB2 until after surgery. Now they want to schedule a hysterectomy or a oophrectomy 4 weeks after I finish Chemo.
Please ladies post continue to update us about your experience. PALB2 is new and the information will take years to develop. I am especially interested in those of you who are getting screening.
One interesting things is my mom was also tested her side of the family has ovarian cancer and pancreatic cancer through two sisters. Guess what? She was PALB2 negative. It turns out it is from my paternal side. They told me 50/50 chance of getting the gene from your parent. This means each of my sisters need to decide if they would like to be tested.
Gratefully so far in my case the mammogram worked.