PALB2 Gene mutation

Anonymous

PALB2 Gene mutation

Needinfo

I was recently genetically tested for the PALB2 gene mutation due to mother having breast cancer at age 70 (she died of an aneurysm at 73) and sister having had not one but two bouts with ovarian cancer and now breast cancer.  Results indicate that I am at a 58% risk of developing breast or ovarian cancer by the age of 70.  I am 56 years old now and SCARED.  I am so confused and wondered if anyone out there has any information on this gene mutation.  I had a 3D Mammogram yesterday and am waiting for an MRI to be ordered. 

vlnrph

Look at the FORCE website (mostly for BRCA pre-vivors however they cover a broad range of hereditary breast and ovarian cancer concerns) also do a search here on PALB: there is another forum way down the list where gals have posted. It is daunting but knowledge is power! You will learn a whole new vocabulary...

Also consider sharing your history thru the PROMPT study. Scroll up above the threads in this topic where a link is pinned. The info we provide now will be of benefit to those coming behind us. Did a genetic counselor set up your test? Those people are trained to help sort out the options so you can rely on them for advice also.

Lovinggrouches

I was diagnosed with breast cancer at 41 and tested positive for a variant of unknown significance with genetic testing of palb2. I am number 7 in four generations on moms side to have it, and the youngest. Palb2 is now considered to be up there in percentage risk with brca 1 and 2. The NCCN now recommends to have mammogram every six months and mri yearly for PALB 2 positive patients. My MO wouldn't change his recommendations because they don't know if the variant I tested positive for is a cancer causing one or not. I have joined a study through icare that is joining with Mark Tischowitz who heads palb2 interest group to further study it. I also joined force and the prompt study.

Needinfo

What is the NCCN? I talked with my doc about MRI and Mammograms every 6 months but I read in various places that alternating every 6 months may not catch it quick enough should something develop.  Insurance is always an issue.  I am a widow and estranged from what family I have left.  I am running a very old family business by myself.  I have to depend on today's young work force to help me in my business and it has been so rocky since my husband passed away from renal cell carcinoma 5 years ago.  I don't know where to go to talk to someone about what is best for me since me is all I have.  Trying not to be scared but just wish I could find someone who I could talk to.  Supposed to get a 2nd opinion in June, hopefully that will help.  I don't think the surgeries scare me, it's just what could happen to my livelihood while I am supposed to be taking care of myself.  I have a history of depression that is not really getting any better as I age.  I remember these forums when my husband was alive and they were of some comfort to me, so having said that "Thank you for reaching out to me and so many more who are so worried.

Needinfo

Thank you for the information on both of those sites which I was able to find.  I am planning on getting a second opinion but only after I find out if I will be eligible for a MRI with my health insurance. It is very scary, as I am sure you already know, for me, as I have nobody here anymore who would help me physically or emotionally with all of this.  I am a widow without children and not sure, even if I opted for surgery (I am 58% high risk), who would help me with all of the after.  So tired of being alone in everything I do.  Again, thank you for your help.  I read on one of these forums that this is the club that nobody wants to join, but thank God these forums are here and that there are people like yourself who can share so much.  Take care!

mustlovepoodles

Needinfo, 58% is pretty substantial risk.  I wish I had known about my gene mutations 4 years ago, but PALB2 and Chek2 (my mutations) were "babies" back then and nobody really knew what they did.  If I had known, I might have been able to avoid chemo, at least. My genetics counselor estimated my risk at 45+%. My 24yo daughter also carries the same 2 mutations. Her risk is 58+%, so she has already begun surveillance.

To answer your questions about life after BMX:

It may be possible for you to go from a hospital to a short-term rehab center post-op for a week until you can dress and bathe yourself.  Or you may be able to have a visiting nurse come in a few times a week.

If you have a BMX you will be limited on what you can carry for about 6 weeks--my doctor said no more than 5-lb. To give you an idea of how much that is, a gallon jug of milk weighs 8-lbs. So, you can carry a book, a plate, a coffee cup, pillows, etc.  Some doctors limit how high you can raise your arms, and especially not lift or carry anything with your arms raised.  

If you need to prepare your residence prior to the BMX, put things down on the counter including canned goods where they will be readily available.

If you belong to a church or social club, tap your friends to help with meals. You'd be surprised at who might want to help you. We found that our family was pretty much useless, but our church friends sustained us for many weeks. 

Don't even think about housekeeping--let that go for the short-term. 

My experience after BMX wasn't too bad. Of course, I did have my DH to help me, but I mostly took care of myself.  I was able to bathe, dress, and take care of basic hygiene before I left the hospital.  I was able to make a sandwich and open cans.  When I got home I mostly laid around, with short trips around the house or to the porch.  I could not have walked the dog or reached up to my second pantry shelf.

For me, the hardest part of recovery was having to sleep on my back. I slept on a wedge, which helped me be able to get myself out of bed. But I am a stomach sleeper and at age 60 I am unlikely to change.  I didn't need much pain medicine, but I did need a sleeping pill until I was allowed to get off the wedge and sleep on my side.

Hope this helps you. 

Needinfo

Thank you for all the information, I feel like once I determine my plan of treatment, I will rest easier. I don't know.  I am concerned about ovarian cancer as well since my sister has dealt with it twice and now with the breast cancer and lymphoma.  Not sure what all I truly understand but I think that I can assume with ovarian cancer that there are no signs or symptoms.  I just wish I knew if I carried any other genes because it would make the decision so much easier.  A friend was just diagnosed with bc and she had two different kinds.  I think that is probably pretty common since there are so many bc genes they mention.  You mentioned your daughter tested positive and is working on treatment.  May I ask, is she doing surveillance by extra imaging?  Pretty sure that I will opt for the hysterectomy, but imaging every six months scares me.  Not the imaging itself, just the uncertainty of whether something should form in between imaging.

Can't thank you enough for helping to answer some of my questions and sharing your stories! 

mustlovepoodles

My daughter just started surveillance. So far she has only had an ultrasound. But the plan is for her to alternate MRI with ultrasound pretty much forever. I don't know whether her insurance is going to pay for an MRI. It may only pay for a mammogram and ultrasound. In which case the mammogram is going to be completely useless. She has young dense breasts. They won't be able to see anything with a mammogram.

vlnrph

mustlove (I know I've seen your cute white poodle before around here!): your daughter should not be intimidated if her insurance initially denies the MRI. I have won on appeal although that experience delayed my scan by two months. These "newer" mutations are similar to BRCA abnormalities in terms of cancer risk and it is way better to get something treated sooner rather than later.

For our original poster needinfo - the condition of having two different kinds of BC is not that common, in fact may indicate an hereditary situation, even without family history. The defect can hide for generations by passing thru males who will most likely be asymptomatic. Your friend could consider requesting a referral for genetc counseling.

It certainly does get easier when a plan is in place. A gynecologic oncologist could just take the ovaries/tubes out. A full hysterectomy can lead to other difficulties with pelvic floor weakness, etc.

exercise_guru

I Think a positive benefit is that you have a diagnosis at 56 which means you didn't get any of these cancers at an early age. There are many variance in the Palb2 Gene and they aren't sure which variance is most likely to cause the cancers.

I think a reasonable path is to consult with an OBGYN MO to talk about the ovarian cancer and a screaning of CA-125 etc. Also I have the PALB2 in a variance. I would have to look at the exact variance. Your family history is discouraging but I am not sure I would go to the extremes I had to go through without a diagnosis. Also you have time to look at the different ideas for a mastectomy, reconstruction etc. Then when you have more information you can make an informed decision

Needinfo

Someone asked me why I am so shocked, didn't I know I would be high risk?  Yes, but it was the percentage part that bothers me.  I get a second opinion tomorrow as the first doctor has already lost the copies of sister's results that were supposed to be placed in my file.  Can't wait to see new doctor!  Thank you and take care!

exercise_guru

Its is a lot to process. There are some factors worth considering. Because your sister had ovarian cancer I would definitely see an MO GYN I had a 1st aunt who died of ovarian cancer at 18. That combined with my diagnosis of ER+ BC led to my doctors strongly recommending an oophrectomy. But its a huge concern and not something to take lightly. I was told by a geneticist it would be 10-15 years before PALB2 was better understood.

Needinfo

Thank you so much for your reply, being able to talk to someone is so appreciated.  I did get my second opinion which happens to match the first opinion.  I am scheduled to see a breast surgeon on Monday, June 5th, and can't hardly wait.  I know you understand when I say that the anxiety and uncertainty is overwhelming.  I believe that I am comfortable with the idea of the surgery but just worried about keeping my business going while I am laid up.  I know things will work out but it is just hard to fathom right now.  I am a widow and inherited a small carry-out restaurant and have to rely on young people to help "cook the burgers".  Their work ethics can be very trying to say the least.  I understand that you too have the PALB2 in a variance.  Can you help me understand what the variance part means.  

exercise_guru

Sure I am happy to share whatever of my experience I can. Genes have sequences where they have a predicted nucleotide and amino acid coding. Thats a fancy way of saying they know what to expect in how the Gene folds and functions based on the order of how its put together. Along the sequence I have a malfunction or variance. There can be numerous places the gene did not transcribe itself correctly and so it doesn't fold and function the way that normal Palb2 Genes do. This can be a problem or the error can be somewhere in the gene that doesn't make much of a difference. In your genetic report it will tell you a code of where your variance is and you can google that or look on the force website if you would like more info but its kind of like mining for garnets but a lot less fun. They are just now detecting and finding out about Palb2 Gene. The geneticist told me she remembers how excited everyone was when this was discovered and presented at conference. So we are probably talking less than 10 years. Since the geneticist is telling you your risk profile I think its safe to assume that your variance is significant. you can read about your 58% number link....(Breast-Cancer Risk in Families with Mutations in PALB2_ in this study if you like.

Now about the ovarian cancer and Palb2 that is a small population study they did in a European country. I will try to find a link to the study. They scanned family members who had tested positive for Palb2 and then traced their genealogy for known Cancer occurrence and found a statistically significant increase in ovarian cancer. They couldn't prove the pancreatic cancer in that study. I know about this because I was searching for my variance code and found the study. FORCE website on PALB2 . Ovarian Cancer is rare in a population and its very hard to detect in its early stages and most often is found by accident. to make things more opaque PALB2 is thought to be much less prevalent than BRCA2 and BRCA1. This makes it very difficult to deal with for those of us who have to make choices with the limited information available.

So the bad news for those of us dealing with Palb2 is that the cancer often runs in families. if your mom (in my case my dad) had the gene then each sibling has a 50% chance inheriting the cancer causing variance. I have 5 sisters and four nieces. I honestly don't know what they will do with this information. I am the first person to be diagnosed with Breast Cancer. I do know that there are women who have gotten a prophylactic oophrectomy( Mine was such as I did it as a preventive measure) My DBL Mastectomy wasn't optional.This paper talks about outcomes

I will post more later and feel free to post more its a lot to take in. If your MRI is negative then time is on your side. you can interview doctors, travel if needed, plan for a time when your business is the slowest to ease your recovery. You have time to find out how to get insurance or whatever to pay for it. You can post and get prepared for the recovery and what it might involve depending on what path you take. If its oophrectomy you can pursue that orthoscopically which has a very reasonable recovery. If you do a DBL mastectomy you can do several options and make a plan. If you choose to screen and wait that is a path as well.

The first month of finding this out is the worst by far. Once you get over the initial shock and get some information you can make a plan and do this on your terms.

Also needinfo. If you pm me I can send you my phone number. I am happy to set up a time we can talk about all of this and share a sympathetic ear. In Breast Cancer they have someone who volunteers this and is a cancer survivor. The gal they paired me with was a total stranger but she called me and allowed me to call and talk with her to come up with a plan. She has the BRCA mutation and was extremely helpful. At the very least I didn't feel as alone facing this. I am through my treatment and in a place where I am comfortable talking about Palb2. If it helps you are welcome to talk with.

Needinfo

Thank you for a wealth of information.  I will definitely check those links that you have offered me.  I must apologize, I am just learning all of this modern technology.  Not really sure how to PM but I will figure it out. Thank you for offering to visit with me over the phone. You have really done your homework with this and I must commend you for the knowledge that you share.  They say to get out there and talk to people and visiting with you has been a tremendous help to me.   I asked the social worker at the 2nd Oncologists office if they had a network of counselors or other women who have had to face these issues.  She sent me the entire list of social workers for the state of Kansas.  She said she would have to get back to me regarding other women dealing with these issues as she said that I was the first person to ever make such a request.  Hard for me to imagine that nobody has ever made that request to her before.  Anyway, I will PM you soon, as I would love to visit with you more. It is very scary as you know but sympathetic ears makes this whole thing more bearable.   Looking forward to speaking with you soon. Take care!