PALB2 Gene mutation anyone?

Connect to people like me Younger women
1

Hi there,

I’m 37 and whilst undergoing my cancer treatment I’ve been diagnosed with the PALB2 gene mutation. I hadn’t heard of it before, and understand it’s almost like the sister to the BRCA genes. I wondered if anyone here has had that diagnosis, and whether you’ve taken any preventive mastectomy measures? 

Many thanks in advance,

x

2

Hi Theresa2020,

Thank you for your post.

I am sorry to see that you have not had any response. I am hoping that my response will help our members to see your post and offer their experience and advice.

Please remember that for any clinical question, our nurses are here and happy to talk.

Sending you our warmest wishes,

Zoe

3

I had bc at 30 I done all treatment and for the surgery I had to have genetic testing but they said I could have a double mastectomy as I would carry the gene as mother and aunti had bc early 40s. Big shock I didn’t carry gene. I was offered to go in a genetic programme to find out more information. 
but I had a double mastectomy and had my ovaries and tubes removed as preventative measure. I had to fight for this as I knew this was right for me. Go for what you need and makes you happy to move forward. Sorry not much help on palb2. 
wishing you all the best. X

4

Hi @Theresa2020 ,

 

 

I’ve got a CHEK2 gene mutation. It’s not the same as a PALB2 mutation but I wanted to say hi .

 

 

I was diagnosed at 30 years old and the genetic mutation was a surprise, doesn’t explain why I had cancer but it’s part of the reason I suppose. I now have yearly 

MRI scans as a preventative measure. (As I get older and my risk of cancer increases I may look into other preventative measures.)

5

Hello,

I’ve just been diagnosed with a PALB2-Mutation (c 172_175del, third exon, heterozygous) which I inherited from my mother who got a testing after her breast cancer diagnosis due to multiple cases of breast and ovarian cancer in her maternal family. I am still waiting for an evaluation and a risk assessment by the FBREK Charité Berlin, where I got tested, but I am bracing myself for a long fight to get my health insurance to pay for my double mastectomy. Since PALB2 is too rare, I presume there is still not enough data available in Germany for my (public) health insurance to cover the costs. But that is the situation here in Germany.

Kind regards,
Julia

6

Hi, I also have PALB2. Genetic counselling helped me understand my risks clearly. They explained the numbers for breast cancer risk and how it changes with age. That helped me decide what to do.

Some people choose increased screening every year with MRI and mammogram. Others choose preventive mastectomy depending on family history and personal comfort. There is no single right choice. You can ask your team to refer you to a genetics clinic if you have not seen one yet. They can outline your options in detail so you can decide what feels right for you.

You are not alone with this.