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A PALB2 Gene has Taken a Terrible Toll on my Family

August 01, 2020

A PALB2 Gene has Taken a Terrible Toll on my Family

by Marie Apke

I come from a family of strong women who continually faced cancer. In 1965, my grandmother courageously had a radical mastectomy due to breast cancer. My mom was very worried about getting breast cancer, too, and then she was diagnosed and had a lumpectomy when she was 62.

My oldest sister developed bile duct cancer and spent two very tough years trying to do her best to live. At the same time, after almost 25 years, my mom’s breast cancer returned and ultimately caused her death. So, within one year, I lost our mom and my sister.

My youngest sister, Lou, and I religiously scheduled our annual mammograms. Unfortunately, she was diagnosed with breast cancer, too. She was tested for a BRCA mutation, and surprisingly was negative!

Looking for more genetic answers

I still felt that my family history of breast cancer seemed to be more than just random. I decided to talk to a genetic counselor and let her know that BRCA was not part of our history. She recommended that Lou have a genetic test for mutations in other genes. That is how she found out that she has a PALB2 mutation.

Although the results were hard to hear, my family finally understood why we continued to be affected by breast cancer. It probably also explained why my oldest sister died of bile duct cancer, which may also be linked to PALB2 mutations.

I knew I also needed to take the test. I was shocked, frightened and angry when I found out that I also had a PALB2 mutation. I felt sorry for myself for about one day. Then I realized I was so very grateful for the explanation my mutation provided and empowered that I could actually do something to decrease my odds of developing breast, bile duct and other cancers.

My genetic test may have saved my life

I went into research mode. I found FORCE and knew that this organization would help me make informed decisions. FORCE understood the issues I faced and how I felt as a previvor.

I had a double mastectomy with bilateral DIEP flap reconstruction in 2017.  At the time, I thought that PALB2, breast cancer and my mastectomy would remain on my mind every day of my life. But here is the very good news, it didn’t!

Looking to the future

I realized that my genetic makeup, including PALB2, has been a part of who I am, even before I was born, and that it does not define me. I look forward to the future, when my kids and grandkids, great grandkids and all those down the line (if they are positive for PALB2) can benefit from science that will hopefully fix this genetic mutation.

In honor of my grandmother, mother and sisters, I am now a FORCE peer navigator. Doing this work allows me to speak with people facing PALB2. They empower and inspire me with their strength and hope. I am so very grateful to be part of this community!

Posted in: Stories
Tags: Hereditary Cancer , Breast Cancer , Genetic Testing , Previvor , PALB2

8 Comments

January 8, 2024

Sophia says:
I’m 56 with recent diagnosis of PLAB2 mother passes away at 53. It seems I need to get a mastectomy .

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November 6, 2023

Lillis Åkesson says:
My grandmother and mother both died from pancreas cancer. Genetic testing showed I have a rare PalB2 VUS (variant of uncertain significance). c.2840T>C (p.Leu947Ser) And after 10 years it is still VUS, but a bit more suspicious than other VUS. A doctor told me it is a 50/50 chance it is pathogenic. I don’t know how to handle this, they don’t do anything as long as it is classified as a VUS. There is no breast cancer in family or cousins or aunts but I still worry.

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March 22, 2024

Summer Bluett says:
Hello! I also have the same VUS and cannot find any other information for this. I am trying to do research to see what this could mean for my future.

Reply

April 13, 2021

Betsy Philip says:
Hi, I just found out I have the PALB2 mutation. Please if someone can contact me to provide information that would be great. Thank you, Betsy

Reply


June 14, 2021

Kelly says:
Marie - Thanks so much for sharing your story! You are an inspiring, brave and smart women. I, too, have the PALB2 gene (unfortunately, I didn't find out until after I was diagnosed with triple neg breast cancer). Fortunately, after chemo, double mastectomy, lymph node removal and radiation, I am now 3 yrs cancer free. I was diagnosed when I was 40 (4 months after a clean mammogram, btw). Turns out I got the gene from my dad's side (his mother, several aunts and other female relatives had passed from breast and other cancers). So glad I'm not walking this PALB2 journey solo. All the best to you! Kelly

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June 24, 2021

Kristina says:
I too have the PALB2 gene, as does my little sister. We both found out within a month after my mother passed away from her second bout of breast cancer. No genetic test were offered with her first breast cancer, as it wasn't progressive enough. She was just put on extra screening, little help that did. She had her regular once every 6 month test, in November, found out she had triple negative breast cancer and was dead 6 months later. (this was one month and one week ago) I am in the anger part of grief, as my mom isn't here for my journey, or my sisters because of lack of offering this test to her 10 years ago with her first breastcancer.

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October 21, 2021

nicole lepera says:
Thank you for your story. I had invasive breast cancer in 2014 and when I got diagnosed with Stage 0 breast cancer in 2019, I was genetically tested and found with this mutation. I chose to wait and now the cancer cells have spread to a larger area of my breast and seems mastectomy is the only option. After having yours done, have you had any regrets? Or do you just get used to the loss of feeling, etc. If you don't mind sharing that. I am reading stories about people with this mutation to understand just what I'm up against. I applaud your bravery and taking matters into your own hands, and I'm so sorry about all the pain this mutation has caused your family.

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October 26, 2021

Colleen M Larose says:
OMG! I am so happy to find this. My story is almost the same. Additionally, my mutation is very rare. My cousin was just diagnosed with bile duct cancer. I am looking for resources and offering help.

Reply

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