PALB2 mutation - what to do next?

Hi Jan

Sorry to hear that on top of having triple negative breast cancer you are a carrier of the gene mutation.  While I don't have experience/information to share I noticed that you haven't had any answers yet, so I thought I'd reply to you to move you to the top of the discussion.  Hopefully someone will along soon with the information that you are looking.

Wishing you the best of luck with your operation whatever you decide to do.

Best wishes

Daisy53

Hi Jan, 

Just spotted your post - like you, I’m also a PALB2 gene flaw carrier with triple negative breast cancer. I was diagnosed with bc in November last year; got results of genetic testing back in March and I’m currently halfway through chemo. 

So while I can’t share the benefit of any wisdom or insight from having got out the other side, I just wanted to say hello and that I’m going through much the same thing at the same time… 

There don’t seem to be many PALB2 triple negative types around… we’re a rare breed (though a breed we’d rather not be!) 

Oops… got cut off there! I’m also at the stage now where I’m researching surgery types and having to do some very difficult and emotionally hard thinking about what is best (and what I can make peace with eventually with my future ‘new body’)

The news of the PALB2 flaw was a sledgehammer blow to me, as it clearly meant the lumpectomy I’d started out with in my treatment plan would now not be the best option for future survival. 

I finally get to have a discussion with the genetics consultant next week about my personal risk rating for lifetime return of cancer - I’m expecting this to be very high, and I think it will be another decisive factor in deciding on a double mastectomy and reconstruction. 

Im also having a discussion with the genetics psychologist tomorrow (I think up to six sessions might be on offer) and I’m hoping this will help me in processing the PALB2/ triple negative news… and help in coming to terms with the need for radical surgery.

But right now I swing between desperately wanting to keep my own breasts and get signed up for the very high risk screening programme, and reluctantly knowing that a double mastectomy would reduce my odds of repeat bc to under 5%. 

I’m a single parent of two young teens (no new partner, sadly) and the thought of not being around for their 18th birthdays, exam results, graduations, weddings is terrifying enough to make me run for the operating table! 

I hope that you’re being offered the same genetics counselling, support and opportunities to ask the important questions to help you make decisions. The ‘Not just BRACA’ campaign by the Power sisters is a good place to start finding out more, and there is also a PALB2 interest group online (though a mix of medical researchers and ‘lay’ people/carriers).

Sending a big virtual hug, and the message that you’re not alone

Hi there,

thank you so much for taking the time to make a connection. I too was heading for a lumpectomy and then got hit by this news. I am 59 and my family have a history of long life so this did throw me! But it didn’t throw me as much as the cancer diagnosis and TNBC also has a high reoccurrence on its own so throwing this in just heightens everything!

Interestingly I wasn't offered any form of counselling by the genetics person. However I have managed in my head to turn it around to having been given protective options that wouldn't have been available to me five years ago as they didn’t test for it then. I am seeing it as having been given an opportunity for life in this vey unfair and unpredictable world so I’m 90% sure I will go for the double mastectomy - affected side first and other side some months down the line. The breast surgeon said that because chemo batters the immune system, she feels it makes better clinical sense to do one side, allow for recovery etc etc and then do the other - I’m ok with that. 

I have tolerated chemo pretty well on this journey (I’m half way through). I really don't want to go through it again or live with the anxiety that something is growing inside one of my breasts. My risk came out as 30% chance of reoccurrence in my life time. 14% is considered high apparently - so it’s double that.

It seems you are younger than me and I can understand that the choice may feel more difficult to make - what a curve ball this is!

I am small - 5ft 3, 8 stone 7, small breasts. At the moment I am thinking I wouldn't have reconstruction - I have had a fair bit of unrelated surgeries over the past ten years (foot and spine), and I have had enough of the operating table. I want minimal invasion and recovery time. But I see loads of people are really happy with reconstruction. I will just smash it out on the body positivity feminism front I think.

I did have some good news to celebrate last week - I had an MRI and the tumour cannot now be found - if there is anything there it is no longer measurable so at least the chemo is doing it’s job. That helps as my next treatment is tomorrow - pacliataxel with carboplatin. Last time I had carboplatin I was exhausted for the week but I might cope with that better knowing that it is working.

I’m so glad I’m not alone with PALB2  - we are a rare breed indeed. The other thing I do feel devastated about of course is implications for other family members who now need to make a decision about testing - in fact that feels the worst part for me I think.

Thanks for virtual hug - gratefully received .

Jan x

Hello! Hope the latest round of chemo didn't leave you too wiped out and that you're recovered to enjoy a sunny weekend.. That is amazing news from the MRI that the tumour cannot even be found! Such an excellent result to get to that point. I have read that TNBC really does respond to chemo - mine has shrunk by half at the midway chemo point (from 3cm to under 1.5cm). A big positive.

When are you due to finish chemo?

I think I'm on the same regime as you at the moment... carboplatin + paclitaxel combined every three weeks and paclitaxel weekly. I seem to have tolerated it ok too... For my final three months I'll switch to the EC combination every three weeks (which can make you more nauseous, so I guess I'll find out...)

I understand the guilt/worry about having to let other relatives know about the genetic discovery. I've not yet spoken to the genetics consultant, so not at a point to tell other relatives about the potential for a  PALB2 gene flaw. My sister did point out that the majority of our cousins are over 50 and so - fingers crossed - will have been on routine breast screening programmes in the UK for some years now. That did make me feel a bit better. There are a couple of younger female relatives (and some children) that makes me feel sad to have to share the news with. I suspect that the PALB2 flaw comes from my father's side of the family - lots of cancer on that side, and my sister had bowel cancer at 38. But no breast cancer diagnoses on either side, which is very strange. 

Having had my only sibling diagnosed with cancer at 38, I suppose I've been very aware that the same could easily happen to me. She lives in Germany (where she was treated for bowel cancer) and has asked her oncologist about a possible link between breast and bowel cancer - studies are very mixed though and no conclusive findings... 

My sister has thankfully been cancer-free for seven years now, and has been a rock through all of this for me. She has learned to live with 'scanxiety' and be stoic and positive about life after cancer, so I'm very thankful to have her support.

(I've got my 50th birthday in just under a month, though, so am not exactly planning a rager of a party though!!)

Interestingly - from my first session with the genetics psychologist yesterday - I did learn that 50% of women don't go for a double mastectomy immediately after treatment. She said that there tends to be clear split between those who make an (instinctive?) decision to have this, and those (like me) who need more time to decide and are contemplating joining the very high-risk screening programme and seeing how they cope with the anxiety of annual screening first. I guess with a view to making the decision about a double mastectomy further down the line, or if there is a re-occurence of breast cancer.

It just wasn't something that was even raised in my first meeting with the breast cancer surgeon, so I thought that was interesting to hear. I've been feeling railroaded into the double mastectomy and am relieved to have time to research and make my decision.

I agree with you that there's something liberating about the choice to go flat. I have a very good friend who was diagnosed with BC and the BRACA gene flaw 12 years ago (it was heartbreaking - she had 3-year old twins at the time) and had reconstruction with implants. She never got on with them - said they always felt like foreign bodies and constantly affected her sleep. So last year she had them removed and went for flat aesthetic closure - she is very happy with the results.

I kind of like the way many women are reclaiming their bodies with mastectomy tattoos (some beautiful floral designs) over the scars. If - like my friend - I later decided to have explants then I'd decorate my body with something that made me happy, just for me. 

I live in East Kent, and have heard that there are support sessions at a bc specialist centre in Sussex where they have something called a 'show and tell'. Women with various forms of bc reconstruction will talk about their experiences and outcomes. I will ask my nurse about attending one of these. I don't know if there is anything similar in your region?  

Quite nervous about getting my lifetime risk rating next week from the genetics consultant, but if I learn anything useful about PALB2 etc. then I will share with you (if you would like me to?)

Take care!