PALB2 mutation
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Hello Ddolina, I'm sorry to hear that you are dealing with this during this time. Are you able to get a telehealth appt. to get your questions answered? My own experience is it's most stressful when things are uncertain and even difficult things are easier when you have information! Having said that, have you been getting regular mammograms due to your age and family history? If so, that seems very reassuring. Nothing the breast cancer geneticist will recommend or do is urgent so waiting a bit wont impact that (although it's the unknown that's stressful). The Palb2 gene doesnt mean you will get breast cancer either-- I will share that my Aunt who must have been positive for the gene (cousin was positive for it) died at an old age and never had breast cancer even though, like you, her mother died of it at age 40. Best wishes, stay healthy!
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Checking in to this forum for the first time. Diagnosed with breast cancer on 2/14/20 and genetic test revealed PALB2 mutation. I'm 44. Not sure what side it came from yet, but there is no history of breast cancer on my father's side (2 aunts) or my mother's (2 aunts plus my mother). I'll have to find out which side it came from as I have 1/2 siblings on my father's side who should know.
@Ddolina, one phrase I've learned since my diagnosis is "the mind makes mischief". When we are in periods of uncertainty (waiting for test results, etc.) our minds can imagine all sorts of things - usually the worst things. PALB2 mutation, like @hyphencollins before me wrote, does not mean you'll ever get it. I'm the only woman in my family so far to show up with it. It just means extra screening for you (breast MRI I believe) at this point, which - when you can get it done - will hopefully give you extra peace of mind as it detects more than a mammogram.
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Greetings all,
Diagnosed with a rare (Invasive Tubular Carcinoma), very small, very-well behaved breast cancer in July...on my 50th birthday. (2020 is the year that keeps on giving). I was told I won the lottery of breast cancers. Original plan was to do a lumpectomy and spot radiation.When genetic testing came back, I tested positive for PALB2 and there is no cancer history on my father or mother's side, so this was a bit of a surprise. After a long discussion with my surgeon at DF in Boston, I decided that I want to be aggressive in lowering risk for a second cancer in the future, as the next cancer might not be so kind to me. So I am planning on having a bilateral double M with reconstruction and surgery is in Sept. I will not need Chemo or radiation so this is a gift. I will likely be put on estrogen suppressing medication sometime after surgery.
Also with the genetic team and they told me there is a lot of research going on in regards to this gene and as time goes on we will learn more about it and I will get constant updates in the event that screenings change. . I am interested in finding a research study to participate in, as I believe the more we can help with this, the better for our children/nieces/nephews who might hold the gene themselves. But I'll tell you what concerns me the most: the elevated risk of pancreatic cancer. Even though I'm told they believe the elevated risk is about 2-3% that increases towards the age of 80, it still gives me fits of panic. They aren't recommending screening for it (as there is no family history), but I don't know. How do you all feel about this one? RE: possible ovarian cancer risk (which genetics told me they just don't have data for).....Maybe in a couple of years I'll tackle that piece. The pancreatic cancer bit is horrifying and I may ask about screening starting next year anyways.
I want to say that I feel very blessed that my tiny cancer was found by a radiologist with a keen eye, and that this cancer is lazy and rarely spreads. I know how lucky I am. However it certainly opened up a Pandora's Box finding out I have the PALB2 mutation. But I do feel I have more knowledge for my children should they carry the mutation as well.
I'm interested in hearing everyone's story on their PALB2 information and am willing to offer whatever information I get as well. My doctors are at Dana Farber so again, feel blessed I live close to Boston as they're terrific there.
Everyone be well.
Elena
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Hyphencollins, I see you're in Arlington. I'm a neighbor in Lincoln. ;o)
Elena
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Welcome, CoralClouds! We're so sorry you find yourself here, but we hope you find this community to be a welcoming and supportive place. We know having a genetic mutation can certainly add to your worries about what the future holds, but it sounds like you've got a great medical team who are on top of the constantly changing research field! Best of luck on your upcoming surgery, we're all here for you!
The Mods
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Welcome CoralClouds, though I'm sorry you are joining us. I'm sure you are in great hands at Dana Farber. I hope your mastectomy and treatment goes smoothly...hang in there!
I was tested for PalB2 at Mt Auburn in Cambridge and the geneticist there did suggest the pancreatic screening...but I dont know ... there were some minor findings (if you read my earlier posts here you can see) but honestly, they dont know if it has anything to do with the palb2 or if it's even anything to really get too concerned over for that matter. And my most recent MRCP was fine (which is great!).
It was recommended that I see the geneticist yearly as they are still learning more about palb2 and other cancers. Did they suggest that to you? There are several cancers besides breast cancer in my family but no pancreatic (or ovarian) so I am very interested in learning more for my kids and niece/nephew. (Although I pray they are all palb2 negative).
Ps. I'm actually in southern NH now (still not that far away). I do miss Arlington though
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Dana Farber has been great. Once I get past this breast cancer BS and surgery in Sept I will speak to genetics again about the pancreatic risk and possible ovarian..which again, they don't seem to know much about. There is no family history of any cancer at all in either side of my family. Genetics did not recommending screening for pancreatic but said if I wanted it they wouldn't say no. I might just ask for an appnt witha pancreatic specialist at some point just to get their take on it. They said there is a slight risk with the PALB2 that upticks towards 80 years old but that it's only a couple % greater than the average population. So I don't know..... There is a fine line between normal concerns and overkill. It's hard to strike that balance.
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Since I have some pancreas cancer in my family I do have endoscopic screenings but without that family history I don't think it would have been seen as quite as clear cut. Ovarian cancer wasn't considered an increased risk at the time I was dx. but is now, although the medical community seems to lag behind a lot of the research. Nonetheless, I've been advised that (again, with some - but not extensive - family history, RRBSO would be a good idea.
There is an organization researching PALB2 but I've not found it particularly useful as a source of information. They do have an information session coming up later this month that you might want to look at. However, the dial in numbers are all UK-based. : http://www.palb2.org/blog/palb2-information-session-24-september-2020-1700-1800-gmt-by-zoom/
This group is studying PALB2 mutations. However, I find that their public-facing information seems to lag behind a lot of other research I've seen and is very conservative. My sense is that it exists primarily in order to engage women in their study cohort. https://inheritedcancer.net/palb2-study/
Another source of info is FORCE (Facing Our Risk of Cancer Empowered) which is more BRCA 1/2 oriented and their PALB2 info is pretty outdated but they do run info on clinical trials, research projects and the like, which are pretty well done. They also offer a telephone-based peer support service, which I found very helpful, even though I didn't take advantage of it until a few years after dx. of my mutations. Their message board, again, is pretty BRCA 1/2 dominated but can be helpful. (FORCE was organized years before PALB2 and some of the other risk mutations were ID'd, so their orientation is understandable.)
I hope some of this helps!
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I am going to share my story of this terrible Gene palb2... I was diagnosed March 2017.. my surgeon was concerned about how much breast cancer was in my family.. I had the genetic test done but it did not come back until after my surgery.. which was about a month later... palb2 positive! I had a left mastectomy done.. then a year later I had my right good breast taken off with reconstruction.. I did not choose implants, I had liposuction from my thighs and buttocks into my breast area.. which looks good,small but natural... my family history is terrible !!one great-aunt with ovarian cancer, one great aunt with breast cancer, my mother breast cancer, my mother's sister which is my aunt had breast cancer passed away...her daughter my cousin breast cancer, my sister ovarian cancer and passed away 2018...and my second cousin breast cancer..My warning to all.. is get those breast's off!!! Please!! My mother has it in both breast's..she is 85 and can't do surgery because of her age and Frailty, but is on a good aromatase inhibitor keeping it under control!!not in the lymphatic system as of yet! As for the ovarian cancer I am getting surveillance with vaginal ultrasounds every 6 months!! I can't find an OBGYN that will take them out for me because there is nothing wrong with them!! Hello I'm palb2 positive!! I will need to find another OBGYN!! Hope this helps with decision making for all!!!
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Hey all, I know this is an old thread but this is a new space for me. I got generic tested earlier this year for PALB2 as my mum was diagnosed with Triple Neg BC last year, they tested to see if it was genetic which she had the gene, meaning I could get tested. I'm in the process of assessing my options both going public or private and then preventative in terms of masectomy and reconstruction or annual testing or medication so still on that side of the journey. Keen to chat to others who've been in this space. Ta
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