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Education > Our Blog > I Am a Two-Time Survivor of Breast Cancer Caused by a PALB2 Mutation
I Am a Two-Time Survivor of Breast Cancer Caused by a PALB2 Mutation

August 24, 2020

I Am a Two-Time Survivor of Breast Cancer Caused by a PALB2 Mutation

By Lindsay Northrop

Generations of breast cancer on my father’s side of the family

We know that in some families there can be a predisposition to certain diseases, be it heart disease, cancer, Alzheimer’s or something else. In my family, it’s breast cancer. I knew from a young age that breast cancer took the life of my paternal great-aunt, who was in her 40s when she died and left behind a young son. When I was in college, my paternal aunt was diagnosed with breast cancer in her late 30s. After digging a bit more into our family medical history, we found that not only did my paternal great-grandmother have breast cancer, but both her brother and sister had it, as well.

A genetic counselor ensured my own cancer was detected early

Given this information, I was proactive and started regular breast screenings in my late 20s. One of my doctors suspected that a mutation might be responsible for the cancer in my family and encouraged me to have genetic testing for mutations in the BRCA1 and BRCA2 genes. In 2013, I met with a genetic counselor and had my bloodwork taken for the test, which showed that I did not have a BRCA mutation. Although I was relieved, my genetic counselor urged me to continue with regular breast screenings, which included a yearly mammogram and an MRI spaced six months apart. I am eternally grateful for that counselor and the advice she gave me, because exactly one year later I was at that same hospital having a double mastectomy after receiving my own breast cancer diagnosis two weeks earlier.

A PALB2 mutation caused my breast cancer

Initially, my oncologist didn’t think I would need chemo, but after we received my Oncotype score, my healthcare team decided it would be best for me to have four rounds of A/C (Adriamycin/Cytoxan) chemotherapy. The night before my first round, I came across an article in The New York Times that explained how researchers found that mutations in the PALB2 gene increase the risk of breast cancer.

The next day, as I was meeting with my oncologist, I mentioned the article and asked if I could be further tested to include this gene. She agreed. I then had a full genetic panel test that showed I did, indeed, have a deleterious mutation in the PALB2 gene. I was relieved that we had finally determined the hereditary cause of my cancer, but I was frustrated to learn that data is limited regarding this mutation. I understand that researchers need to study patients, like me, to better understand how this mutation manifests in younger women, so I have been participating in research to improve care and outcomes for others who face a similar diagnosis.

Exactly two years after my initial diagnosis, I found a few lumps in my armpit and was diagnosed with a localized recurrence. I underwent axillary lymph node dissection to remove 14 lymph nodes on my affected side, 10 of which contained cancer. It was a devastating setback, but I knew that I had gone through treatment once and I could do it again. After the surgery, I had chemo and radiation and also had my ovaries and fallopian tubes prophylactically removed. I am thankful that there has been no evidence of disease since I completed treatment in 2016.

Discussing the issue with other family members

Recently, a first cousin reached out to me, as she shares the same family history and wanted to be genetically tested. Her insurance company would not pay for genetic panel testing unless she could prove that someone in the family had a mutation. I was happy to provide my results so that she could be tested (thankfully, she tested negative), but I felt discouraged that she had to go to such lengths for a simple test that could help her make informed decisions about her health.

My lesson learned

Having gone through so many treatments for breast cancer, I learned a few valuable lessons along the way. I found that in order to make informed healthcare decisions, it is important to work in partnership with your healthcare providers, ask questions, conduct your own research from reputable, reliable sources (such as FORCE), trust your instincts and don’t be afraid to advocate for yourself—it just might save your life. 

Lindsay Northrop, PALB2 Breast Cancer Survivor

Posted in: Stories
Tags: Breast Cancer, PALB2, Breast Cancer Survivors, Breast Cancer Treatment

6 Comments

June 17, 2021

Jacquelyn Wostenberg says:
Thank you for sharing your story. I find it inspiring and encouraging to not give up. I have the PALB2 mutation and was tested after diagnosed at age 40. Never thought my first mammogram would save my life. It is challenging to find research on this mutation and happy to see others helping with studies. I too would like to help were I can. My family was unaware of such a mutation, but thought I would get tested as I had a paternal grandmother diagnosed with metastatic breast cancer at age 45 and died a few years later. Now family are having their own tests done. Thank you again for your story.

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November 18, 2021

Diane Spangler Ramirez says:
Hi Lindsay, Thank you for sharing your personal journey. I was diagnosed w/breast cancer (non-invasive DCIS) 3 years ago and was encouraged to have genetic testing since we also have a history of breast cancer in my family (mother & aunt in their later years and a first cousin in her 40's). My genetic test results showed BRCA 1 & 2 negative, but positive for the PALB2 gene. The information helped me greatly in guiding my decision of treatment. I chose to have lumpectomy w/IORT (radiation during surgery) and a oophorectomy all at the same time. Afterwards, I encouraged my Mom and 5 siblings to have genetic testing, which they all agreed. Three of my siblings were negative, but my Mom and 2 siblings (sister & brother) were positive. The genetic information has been such an enormous asset for our family. Like you, I and my sister (that tested positive) both get tested every 6 months, alternating with a mammogram and MRI. Her recent MRI test unfortunately showed she has Stage 1 invasive breast cancer. We're so thankful that the genetic testing made us diligent with regular testing, as she caught it at an early stage. Last month she had a lumpectomy and will be treating soon with radiation. However, she just received her Oncotype score of 27 the other day, which ranks her at the low end of the high risk segment. At age 65, she is on the fence and torn about choosing chemo on top of the radiation treatments. Her greatest concern is the chemo side effects and the toll it will take on her body. She is waiting on her Dr.'s advice, but hopes the recommendation of just radiation and the cancer pill (Arimidex) will be sufficient. Do you have any thoughts on chemo or can you share how chemo has affected you since you had it both times for treatment? Thank you kindly for any advice, Diane

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December 17, 2021

Susan says:
Hello Lindsay, thank you for sharing your breast cancer survival story. My daughter was diagnosed with the PALB2 in August. She is 40 years old and like you she has a family history on her dads side. Only one aunt that we know of. My husband her Dad died of brain cancer so this is such a hard pill to swallow for all of us. She had 14 lymph nodes removed and cancer was in 10. She is considered stage 3. She had a double masectomy and since has had 2 other surgeries. One to remove dead skin and the 3rd one to remove the expanders due to slow healing. She has had only one chemo treatment so far and is waiting to see if her surgery is healed enough to get her 2nd dose of chemo. This is such a terrible disease and I wanted to find out the survival rates of women who have gone through this and are cancer free. To hear your journey gives me hope for her. Some days she thinks she will go through all this and end up dying. I am her constant companion. If you are ok can you share what chemo drugs you received during your treatment. Susan

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April 20, 2022

Susan says:
My daughter has finished all her chemo and has 3 more weeks of radiation left. She has done extremely well with all the treatments so far. I wrote in December of 2021 and felt I would respond to let others know that we are hopeful that her cancer is gone at this point. She met with her oncologist yesterday and asked her if there is anyway to really test to find out if the cancer is gone. This was her oncologist answer. Because of her masectomy she will not need MRI’s of her chest. There are no tests done unless she were to feel pain. Again she had 10 lymph nodes that were removed that had cancer. Those areas and the chest are all undergoing radiation at this point. Her oncologist stated that if cancer were to return somewhere else it would be considered metastatic. She still needs her ovaries removed and reconstruction of her breasts. My thoughts are she has always been very healthy even as a child and she has tolerated all her treatments so we need to move forward now and hope for the best in the future. Susan

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January 22, 2022

Jennifer Reynolds says:
I have palb2. I’ve gone thru all the treatments for breast cancer too. Love to connect

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February 4, 2022

Keri Kasun says:
Our stories are so similar, my grandmother and mom passed away from breast cancer. I found my Palb2 mutation with my moms diagnosis, I also found early invasive breast cancer, I recieved no chemo or radiation because of Oncotype, right sided breast cancer, opted for double mastectomy. Under the disguise of Covid 19 vaccine reaction, I had 14/22 nodes positive for breast cancer. and a somatic Palb2 mutation added on top of my germline mutation. I am getting AC and Taxol. What were you treated with the second go around? I am thinking I need to add Carbo to the mix to make sure I nail this beast. I will also be getting radiation. My tumor is agressive with KI of 58 percent, high estrogen receptor postive 94%, 24 percent Prog, Her2 Neg. My grandmother passed away at 63, my mom at 76, I am only 52 with second go at breast cancer, have a 9 year old son

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