question about PALB2 mutation

[delia2]

Hi. I thought I posted this last night, but don't see it anywhere. Yesterday I had my genetic results and am told I have this mutation which gives me a 58% chance of having breast cancer and increased risk of pancreatic cancer. Does anyone else have this? I'd never heard of it. The silver lining is that PARP inhibitors may work on it. I was really knocked back by the news as it is a threat to my family members and they all have to deal with it too. Thanks for any information you can give me. xo

[lesleysage]

Hello, my only thought is to ring Anna on the Ovacome freephone number 0800 008 7054 as she may know, but if she doesn't she maybe able to find out answers to some of your questions for you. Best wishes, Lesley

[delia2 in reply to lesleysage]

Thanks, Lesley. Good advice!

[Hidden]

I agree with the advice to ring the Ovacome help line, they will help you and give you reassurance and fill you in on the bits we don't know.

[RonLitBer]

Calling the help line is a good idea.

I thought I would also add the following:

The site below, and the organization that is associated with the site will help you understand the PALB2 mutation. It is one of several newer mutations (there is a list) that are being tested in addition to BRCA 1 & 2 now for ovarian cancer. Typically you only get tested for BRCA 1&2 but there are other genes that have also been implicated with an increased risk of ovarian cancer. As a germline mutation it occurs in each cell. As you said it will may make you more inclined to respond to a PARP based on double strand breaks to DNA.

facingourrisk.org/understan...

[January-2016-UK in reply to RonLitBer]

This is really interesting. Thanks for posting.

[delia2 in reply to RonLitBer]

Thank you for this link and reply!

[LittleSan in reply to RonLitBer]

Your responses and posts are always so knowledgeable and helpful. Thank you so much. X

[kit5]

hi delia2 - i have palb2 mutation...found after my initial bc stage 1 diagnosis in 2013. i am now metastatic... not sure if the mutation is the root cause...but yes, it is not a great mutation. go to a well known/reputable cancer center and see if you can start some sort of prophylactic treatment - i have a friend with the ATM mutation and ucsf started her on tamoxifen as a preventative measure. knowledge is power! definitely follow up on this... i'm fine - pretty good shape and told to keep saving for retirement but i wish i had more genetic info earlier.