PALB2 genetic variation



Just wondering whether anyone else has been told they carry a mutation on the PALB2 gene?  I’ve been told that I do and that it could have been responsible for my multi-focal IDC.  I’m mulling over options for the future re: preventative surgery and would be interested in hearing from anyone who has been told any information associated with this mutation.  

Hi skinnyminx

While you are waiting for other members to respond to your post I’ve attached a link to a thread which I thought might be useful:

I hope this helps

Very best wishes


BCC Moderator

_ Hi, _

_ I am also Palb2 positive! I have had preventative operations, but thinking of getting a double masectomy! I have a lot of breast and ovarian cancer in my immeditete family and it puts me at a higher risk! Let me know how it goes for you. I was told that it has a higher risk of getting breast cancer! _

Hi skinnymix and Cookie,

I have recently learned that i have the palb2 mutation. I had primary BC in June 2011 and had bi lateral mastectomy and diep reconstruction. 3 weeks after me my mum was diagnosed and she had single mastectomy. 2 years after that my sister was diagnosed. We saw a geneticist but apparently there was not enough evidence to test us…mum was 79, my sister was 56 and i was 47.

We did however go onto the Breast and Ovarian Cancer study and through that i was tested for BRCA, which was negative. A few months ago i got called back and was told that i had a link to another family where the palb2 gene had been found. I have just got a positive result (apparently my grandma and her brother were carriers, my mum inherited it and so did i). while it has no real consequences for me, my main concern is my 25 year old daiughter. She is devastated at what this could mean for her and her future children but is going ahead with the test. We are trying to be positive and think forewarned is forearmed but any info/support you cold give us woul;d be most grateful.

This is the first time i have gone onto this part of the forum so i will have agood look at all the threads and perhaps find a more appropriate place.

Thanks for listening.

Hi sweetie, I also have palb2! I am also have been diagnosed with inoperable cancer but not giving up! I have to be in chemotherapy for a long time! But that’s OK! Listen always keep searching for answers, I never stopped and had and have faith that we will find a cure! Good luck with your family and I pray it comes back negative!?

I’ve recently found out I have the PALB2 genetic variation. I have a family history of BC - both my mum and grandma were diagnosed aged 50, and my grandma had aunts with BC. I’m 44 now but for years, knowing my mum and grandma were diagnosed at 50, I’ve felt I’m on a countdown to 50. I’ve been having annual mammograms since 40.

My genetic counsellor advised I should continue to have annual mammograms until 50, at which age I’ll go back onto the national 3-year screening programme. At the moment I’m considering my options re: preventative surgery.


I was told that testing for PALB2 is quite new and there’s currently very little research or data on how important the PALB2 gene is in the development of BC. It’s known that it works with the BRCA genes, but it’s not known whether PALB2 blocks tumour supression fully or only partially. Apparently in the next couple of years the NHS will start to re-test patients with a strong family history of BC but who’ve had negative BRCA results to see whether they have the PALB2 variation. Over the coming years there will be more data as a result of this and more research into PALB2 to help get more of an idea of precisely how important PALB2 is, which is good news, but not much help right now for those of us who have a PALB2 mutation.

I found out recently i carry the palb2 gene, only found out as my mum is tackling breast cancer at the moment. All a bit confused by it all to be honest. Im still waiting for my first breast MRI which im finding a bit daunting.