Faces of PALB2

JENNIFER

My grandmother died of breast cancer before age 50 which is a “trigger” of sorts for genetic counsellors. I had an aunt in the medical field who was considering breast augmentation and it was mentioned to her that she should be tested first before undergoing any breast surgery. My aunt got tested and she was negative. She encouraged my mother to get tested since my mother has daughters and my aunt did not.

My mom tested, and was positive for the gene mutation. She opted for prophylactic surgery a year later instead of taking cancer suppressant drugs which was the medical suggestion now knowing that she carried the mutation.

As I am the oldest daughter, I tested shortly after my mother and I also carry the mutation. I was 35 when I found out. I had one child and wanted another so I allowed the time to try. During that time I underwent mammograms, breast exams, gynaecological visits and specialist visits, making sure to be checked out every 3 months.

That was exhausting and scary with the feeling that I was constantly taking tests waiting for the fail. The anxiety during these years I cannot even put into words. The anxiety of it all far worse than the surgery and I pass that info onto others daily. Another pregnancy did not happen and at 40 years old I decided I could not handle the anxiety anymore.

I started the process of finding the “team” of doctors for me. Unfortunately one of the doctors who performed my mothers surgery had already retired, so I started from scratch. The online forums were so incredibly helpful and the kindness of strangers on here was an incredible silent support system.

I am grateful to be on the other side of surgery. I’ve had 3 revision surgeries and from my experience, a mastectomy is a huge surgery and really isn’t a “one and done” type deal no matter how hard one may try. The surgery was the best option for me as I personally couldn’t handle any more anxiety. I’m glad I was brave enough to make the decision to have the mastectomy and I am open to any and all questions you may have. 💪 🧬 🙏 Have a blessed day!

https://www.palb2.org/resources-palb2-partner-localizer-brca2/

MICHELLE

Today is the one year anniversary of my PDMX DTI.
So it seems a good day to share my story.

My journey started probably around 8 years ago. At a family party - we didn’t see dads side of the family very often, but I knew my aunt had had breast cancer. My cousin was there and she was having treatment for breast cancer too.

I went to see my GP about something else, and casually mentioned about my aunt, Nan, cousin and other females on dads side who’d had breast cancer (some bilateral). In fact, every female member bar my other cousin, me and my sister had had breast cancer in their early 50’s - but we weren’t that side of 50 then either. He was just as casual and said ‘I’m sure it’s nothing to worry about but I’ll refer you to 🧬 genetics’.

The outcome at that point was, high risk but no gene identified. My cousin had been tested for BRCA, which came back clear. I was offered regular mammograms and tamoxifen, I decided on mammograms only.

Then my other cousin passed away from ovarian cancer. This moved my risk from high to very high risk and allowed for us to have further genetic testing. However, I dallied around and didn’t go for it at that time.

Forward wind to 3 years ago and my aunt was offered and tested positive for a faulty PALB2 gene mutation, which In turn lead to my dad and me both also testing positive. Fortunately my sister and my two girls tested negative. July 18th, 2019 was the date it was confirmed. I knew instantly I wanted a DMX a with recon. I always knew if they found a gene I would, it was my tipping factor.
Which brings me back to today, one year post op. It’s been a long journey, I still need further ops, as I have capsular contracture.

But all in all I couldn’t be happier. It’s only as I reflect back and realise just how much of an impact this had on my life. Appointments, waiting for surveillance results, finding lumps and bumps took it’s toll. But it truly has been worth it, peace of mind is priceless

JEN

My sister was diagnosed with breast cancer in November 2020 at the age of 35 and was found to be PALB2 positive. Subsequently, my genetic testing also showed the PALB2 mutation. I decided to undergo a prophylactic double mastectomy with simultaneous breast reconstruction (a DIEP flap procedure).

My surgery was June 30, 2021. I was in the OR for over 9 hours. Unfortunately, I ended up back in the OR 14 hours later, due to a complication on my left side. I was in the ICU for 5 days. My recovery was a long 10 weeks but without further complications.

People tell me that I am brave for making this "tough decision." To me, this wasn't a decision at all. I watched my sister become a warrior, enduring multiple surgeries and 6 rounds of chemotherapy, while trying to care for 2 young children. She is a survivor. I was blessed to have the information necessary to take my health into my own hands. I chosen to avoid the massive anxiety of having breast imaging done every 6 months for the rest of my life, just waiting to be diagnosed with something I could have prevented. With this procedure, I chose to become a *previvor*, an individual who has a predisposition to cancer but who hasn't been diagnosed with the disease.

I created the PALB2 Previvor FB page as a space to allow me to share updates about my journey and bring awareness to others.

You can find out more about Jen's incredible journey here: https://www.facebook.com/PALB2previvor

AMIE

September 2016 my mother was diagnosed with uterine cancer, she was 56. She had genetic testing a few years prior to that. There were no positive gene mutations at that time. After she was diagnosed with cancer they did resubmit her genetic testing and it came back that she was PalB2 positive.

She suggested that I have the testing done at that time but I wasn't sure it would be covered and honestly I was not going to the Dr regularly b/c I was in my 30's and healthy.

When I turned 39 in 2020 I decided that I should at least start to have a yearly physical. My P*P convinced me to see the genetic counselor. It took 6 months to get the appointment. She gave me so much information and at the end of the 90 minute visit I decided to go ahead with the blood draw for the whole larger panel of genetic testing. They called about 4 days later saying that my insurance denied the panel but that they would do the PalB2 test b/c I have the family Hx. A week later she called and left a message to call back b/c she had the results. I knew then it was positive. If it wasn't she would have left the message saying great news you are negative! I called right away b/c I just had to hear it from her. The genetic counselor spent a lot of time on the phone with me explaining the process. My coworker/ friend cried with me.

She then referred me to the local oncology department.
I chose a woman oncologist for 2 reasons... #1 being that she is well known in my community & I respect her. #2 being that I wanted someone who had the same parts to worry about. Someone who could potentially be in my shoes.

I am now scheduled to have my mammo and MRI alternating every 6 months. Because this is new for me I've had my first mammo but am not due for the MRI until January.

I had my yearly gyn exam in August 2021 and they found a "cyst". I have had multiple pelvic ultrasounds to monitor it.

We have a strong family Hx of Pancreatic cancer but no breast cancer or ovarian cancer links. My mother does qualify for the pancreatic screenings but I do not b/c I am one more generation out. She does see a breast specialist and has her own oncologist b/c of her own Hx with uterine cancer.

You can find out more about PALB2 and the cancer risk for males here:

https://ascopubs.org/doi/full/10.1200/JCO.19.01907

http://www.palb2.org/palb2-interest-group-2/palb2-mutation-and-cancer-risks/

JULIE

My mother passed away 22 years ago of metastatic lung cancer, origination unknown. As my sisters and I approached her diagnosis age, we did genetic testing for answers. Out of the 4 of us, 2 tested positive for PALB2. Our paternal Aunt survived ovarian cancer, diagnosed at 54, and lost another paternal Aunt at 86 to pancreatic cancer. Our Dad recently tested positive as our PALB2 carrier.

With both parents now putting me at higher risk, I’ve elected to do both oophorectomy and double mastectomy with reconstruction. Meeting with my breast surgeon this Thursday, I await my surgery date.

My mother’s oncologist told us the only closest cure to cancer is surgery, so I am taking my odds in my own hands and reducing my risk. As a domestic violence survivor, I owe my children our freedom filled future, my sisters as motherless daughters and my new husband our destiny. Share my story, you may be able to save a life, like I did mine.

PALB2 is considered a pathogenic gene mutation and recent research has found that a female who has the PALB2 mutation has roughly a 40-60% absolute risk of breast cancer by the time she turns 80.

Family history can have a big impact on a person's risk score too. For example, the risk of developing breast cancer varies from 52% for a female with an unaffected mother at age 50 years and unaffected maternal grandmother at age 70 years to 76% for a female with two affected first-degree relatives.

If you have the PALB2 gene, your genetic counsellor can calculate your risk score using the CANRISK tool. This was developed by The PALB2 Interest Group and takes your familial history and lifestyle into consideration.

You can read more about PALB2 and the risk of cancer here: https://ascopubs.org/doi/abs/10.1200/JCO.19.01907

MARLA

My Aunt passed away from ovarian cancer before my family knew we had a gene mutation in our family. It wasn’t until my very brave very young cousin got breast cancer that we knew that the PALB2 gene mutation was in our family. She unfortunately passed away at the young age of 36. Now we have 11 living family members with the mutation.

I found out June 20, 2019 that I carry the PALB2 mutation. 2020 was the year of my risk reducing surgeries. In January I had my complete hysterectomy and oophorectomy along with a lift to get me ready for my mastectomy. June 19, 2020 I had a ni**le sparing mastectomy. It was an easy decision for me, it was a way I could honor my cousin, who I feel is my hero as well be as proactive as possible to save my life.

I am so happy with my decision. I try to be an advocate for people who may not know they have a mutation or how to go about testing for a gene mutation. As my cousin told me, only a drop of blood can save your life. ❤️(•)(•)

LORI

My journey started in early 2021 at age 49. My mammogram was on March 17th & I was not surprised to be called back. I'd been called back 7 out of 9 years due to dense breast tissue. I've had several clips placed & multiple biopsies all benign to this point.

April 1st, when radiologist called me herself, I knew something was wrong. Honestly, all I heard was BREAST CANCER. The next week was an absolute whirlwind- meeting with breast & plastic surgeons, radiologist, oncologist & genetics counsellor. Genetic testing was deemed unnecessary for me as I had no familial cancer history. I was not okay with this. I insisted & set it up to pay out of pocket. Something in my gut told me this wasn't just dumb luck.

May 10th, prior to my genetics results, I chose to have a DMX/DTI. My gut told me to deal with this aggressively & swiftly for peace of mind. Having a familial stroke history & being born with a PFO (hole in my heart) Tamoxifen & Radiation were not treatment options I was willing to gamble with. It wasn't until after DMX that I got the call from genetics apologizing profusely, telling me I had a rare genetic mutation of BRCA2 called PALB2. Now everyone should be tested & he applauded my decision & aggressiveness in treatment. (A bit hindsight, no?!)

Much research later, I chose to have a prophylactic Salpingo-Oophorectomy to eliminate the ovarian cancer card as well. My outcomes were favorable but I am now riddled with guilt as I learn of each new family member who tests positive. My sister & one of my 3 children have both tested positive for PALB2. My mother's results will be back next week. I'm sad for my son, who is a PA & knows exactly what this means for his future & deciding if he will have his own children now. I know I didn't "cause" this mutation, yet I somehow feel responsible... I am scared for my daughter who is 17 and can’t be tested until 18, as well as my other son who hasn't been tested.

I hate knowing that I was the carrier but I'm thankful there are groups like this one to support them!! I just turned 50 - when people ask me how it feels to be 50 I can honestly say, "Way better than 49!!" ❤️

It would be an honour to feature your story on Faces of PALB2.

This page was created for two reasons...

The first is camaraderie. Finding out that you have a gene mutation can be an incredibly scary and isolating time. We hope this page helps others to realise that they are not alone.

The second is to create awareness and save lives. As PALB2 is a relatively new gene, it’s not on the radar for the media. This means that many people, including medical professionals aren't aware of it. There are thousands of women who think they’re in the clear because BRCA1/ 2 screening is all they know to ask for. Or, their mothers were negative for BRCA1/2 and they didn’t know any other genes existed. Pancreatic cancer can be caused by PALB2 too, which impacts both men and women. And, if two PALB2 carriers have a baby, it may be born with Fanconi anemia. We really need to get the message out an encourage women and men to ask for PALB2 screening.

If you’d like to share your story, please email it with an attached photo to: [email protected].

Instagram's character limit is 2200 words, so please double-check before you send it over. If your family or partners would like to get involved and share their experiences too, they're more than welcome.

Faces of PALB2 updated their business hours.

To find out more about PALB2 cancer risks and the recommendations for screening, click here:
http://www.palb2.org/palb2-interest-group-2/palb2-mutation-and-cancer-risks/

ELLEN

Halloween weekend 2020 I found a lump in my left breast. After multiple mammograms, ultrasounds, biopsies, and MRI, I was diagnosed with Stage 2 Invasive Breast Cancer in my left breast and Stage 0 breast cancer in my right breast.

When I heard the words, “you have cancer”, I was devastated and frightened. I am a parent of a pediatric cancer thriver; lost my husband to an inoperable Stage 4 Glioblastoma; and a caregiver to my father who had pancreatic and bladder cancer. Thankfully, my son and my dad have survived their cancers.

Because my dad had pancreatic cancer and his mother had had breast cancer, I needed to be genetically tested. The only genes I was initially told they were looking for were the BRCA 1 and 2. I was petrified to have the testing; I did not want to know I had either one of these gene mutations. A decision needed to be made about surgery: double lumpectomy with breast reduction, or double mastectomy. I prayed I did not have either gene!

April 2021, I was finally tested. I was negative for BRCA 1 and 2. Relief! Then the genetics counselor told me I had the PALB2 gene mutation and it was linked to breast and pancreatic cancer. I had never heard of it before.

The belief is that it came from my dad’s side of the family. My dad has not been tested, yet, so we do not really know for sure. Both of my sisters have been tested. One of my sisters is negative for all of these gene mutations and one is positive for the PALB2 mutation.

With my results, I was empowered to make the only decision I thought I could make, which was to have the double mastectomy. My surgery was May 03, 2021. There was no cancer in my lymph nodes and I was cancer free. I did not need radiation. I have two more infusions to go.

I walk 5,000+ steps almost every day! I am careful about what I consume. I try to get plenty of rest and manage my stress the best I can. I still worry.

This journey is not easy! It is one day, one hour and even one minute at a time. I'm grateful for every minute that I am breathing. I am grateful for my children, my support system, and my medical team. It would be harder to be on this journey without them. I wish you strength on your journey!

To read about Ellen's journey as a pediatric cancer mom and widow, click here: https://www.amazon.com/dp/195272547X/ref=cm_sw_r_awdo_navT_a_CJ7RYY58RW3KT1PT24RV?pldnSite=1

Ellen is releasing second book about her PALB2 journey this spring.

KRISTINA

Around 2010 my mother was diagnosed with a hormone positive breast cancer. She required a lumpectomy and radiation and proceeded to be cancer free again. At that time she was not offered genetic testing, but was put on the high risk screening program incase her cancer came back. Ten years later between screens my mother at age 64 found a lump. She had it checked out and her cancer had not returned. Instead, she had formed a completely new, hormone negative breast cancer. Between August and November it had grown to an inoperable size and spread to her bones.

In November she did a full genetic screen and it was determined that she had a PALB2 gene mutation, c.2052del. She was put on chemo maintenance and told she had 2-3 years to live. Six months later after a few failed types of chemo and a breast cancer trial, she was admitted to hospital where she would pass away, alone, eleven days later.

By the time she had passed away all three of her children were waiting on genetic test results and within a month it was verified she had passed the gene mutation to all. She has four grandchildren who are "too young" to be tested. According to current practice in Ontario, Canada, an embryo isn't too young to test, but an eight year old is, which in my opinion is unethical. Future parents are permitted to know the genetics of their children, and may choose not to have a child with these genes, but parents of already living children are not permitted the same knowledge. In ten years the grand children can be tested for PALB2, and in the meantime, myself and my younger sister await double mastectomy surgery, and consults regarding whether the genetic oncologist recommends any procedure for our ovaries.

I am thankful to be classified as a previvor, and to not have had to go through cancer treatments, before taking preventative measures.
I am thankful science has come this far.
I am not thankful for my mutation.

I have focused on making art related to breast cancer/previvors/and breast knowledge as therapy and you can take a look at my current b**b art here: https://www.instagram.com/p/CVh7xoOFS-A/?utm_medium=copy_link or follow my grief and palb2 story here www.palb2fyou.com

MEGAN

I've had quite a few women ask me how they can get screened for PALB2?
I'm in the UK and asked my GP what I should do (at the time I didn't know PALB2 existed). Even though my mother doesn't have BRCA1 or BRCA2, he thankfully referred me to my Family Breast Cancer clinic. My mum's had breast cancer twice. This in itself is a red flag but also that she was only 38 the first time.

They sent me a long document to fill in and used this information to calculate my CANRISK score. Because my mother is alive, they asked her to request a PALB2 test with her genetics team. They explained that it's better to find the mutation within my mum first, so they then know which variant to look for within me. There was always a 50/50 chance I wouldn't have my mum's gene.

Many women who have had breast cancer have only been screened for BRCA1 and BRCA2. There are several other gene mutations too including ATM, CDH1, CHEK2, NBN, NF1 and STK11. However, PALB2 is pathogenic and is sometimes referred to as BRCA3. In fact, it has been advised that those with PALB2 mutations should be offered the same surveillance as those with BRCA1 and BRCA2.

If your family member has only been screened for BRCA1 and BRCA2, it might be worth asking them to go back and ask for a PALB2 test.

Below are the latest guidelines for management of individuals with germline variants in PALB2.
https://www.nature.com/articles/s41436-021-01151-8.epdf?sharing_token=LP__0nJC6woAVrMQWV_Y89RgN0jAjWel9jnR3ZoTv0MEmoDXy_dmkoXMOzA0xqvbUoIzLYKd0XnBzVjKmbh3dvM4t7FKTU7SZ3dDSCb4NbZj0U8ji1pZe6nJPeeJoyLnZRiXWW7uTPgByaIPD_fp23oGwfhzmxQ3RcVYHjes66k%3D

KOLLEEN

My decision to have a prophylactic mastectomy with reconstructive surgery was not an easy decision but I know it was the smartest decision. Breast Cancer runs HIGH in my mother's family. The line of women in our family who have had breast cancer is long. Two of my mom's sisters have had breast cancer. BRCA2 & PALB2 are the gene mutations we carry.

Many said: "Wow, that was a fast decision." No, not really. I have been monitored the last 10 years as "high risk" on my yearly mammograms. I have had 3D mammograms, ultrasounds, etc. each year. I have received that call: "We need you to come back in, something was found on your mammogram" way too many times. In 2018 I had a scare and had 3 biopsies done on different masses found in my left breast. I was categorized as a BI-RADS 4 - suspicious abnormality. The biopsies did not show cancer but were being "monitored" with titanium markers that they put in.

After my mom's Triple Negative Breast Cancer diagnosis back in Aug. of 2018 the breast surgeon all of the ladies in my family see wanted more testing. That’s when the PALB2 monster showed his ugly face. My two sisters are negative but closely monitored. In 2018 my mother was diagnosed with cancer, my father-in-law just passed away and I received my diagnosis of being PALB2 positive. I decided to attack this gene mutation before it attacks me. Knowing what I have in my body & being monitored as high risk I didn’t want the constant fear of worrying about the WHEN anymore.

I know there is still a small percentage of getting breast cancer after the surgery but I will know that I tried my hardest to fight it before it attacked me. My family & friends have been very supportive in this decision. My first surgery was in Jan. 2019. The surgery was 6 hours - prophylactic bilateral mastectomy direct to implants. Two weeks later I was back in the operating room due to necrosis. Then in May of 2019 I was back for a 3rd surgery to correct a painful indentation on my right implant. I have been dealing with awful pain on right arm, right arm pit, right shoulder, and right back since my first surgery.

I have tried physical therapy, working with a chiropractor, acupuncture, nerve injections, oils, lymphatic massages trying break up the tissue, etc. I just had my 4th surgery this week to remove a mass that was located at my original stitch area. My surgeon removed “the mass” and I’m waiting on pathology. My journey has not been easy but I fight every day for me, my boys (who are 18 & 20 and will be tested eventually), my husband, and the rest of my family.

😊💗💪🏼🧬 PALB2 WARRIORS

For all of the most recent research about PALB2, visit the PALB2 Interest Group: http://www.palb2.org/blog/what-is-palb2-gene/

EILEEN

I was diagnosed with breast cancer in February of 2011. I was 53. My mom had had breast cancer twice, once in her 20’s and again in her 60’s, so I was considered higher risk and had genetic testing done.

I was negative for BRCA1 and BRCA2, and they did not test for PALB2 back then. I had a lumpectomy, 8 rounds of chemotherapy, radiation and then started on Tamoxifen, followed by Arimidex.

The geneticist had recommended I get retested after about 5 years because information on new genetic mutations was being discovered as more research was being done. So, 7 years later I was retested and that was when I found out I had the PALB2 mutation.

My mom had since passed away so I do not know if she had this mutation. One of the best days of my life was when I discovered my daughter did not have the mutation!

Since this mutation can also increase the risk of getting ovarian cancer (which is so hard to detect early on), I decided to prophylactically have my ovaries and fallopian tubes removed (Oophorectomy) to reduce my risk. Now I am monitored for breast cancer every 6 months alternating between a mammogram and and an MRI.

COURTNEY

I am the 5th generation of women in my family that has gotten breast cancer. I am 39. I found my mass in May 2021 and was diagnosed with breast cancer on the 4th June.

My mom passed away in 2015 from breast cancer. She unfortunately passed before she had genetic testing but I also blamed her doctors. They failed her and in turn failed us. I found out about that I was positive for PALB2 in August. Afterwards I had a double mastectomy for peace of mind in July. My sister is positive and my daughter is negative. My son or brother haven’t been tested yet. I will be having my ovaries removed in January and have already started screenings on my pancreas.

It was a relief to know that it just wasn’t my body working against me. Only 5-10% of breast cancer is genetic so I honestly was expecting everything to come back negative. But, when I got the results it helped put things into perspective and that I'd also made the right decision to have a double mastectomy.

MEGAN

My mum had breast cancer twice. Once, when I was six and again when I was twenty. Incredibly, despite being told that her second cancer was metaplastic and Stage 4, she kicked it’s arse and is still with us today. An honest to God, real-life miracle.

In 2016 we waited with bated breath when my mum got tested for BRCA1 and BRCA2. She didn't have either. Relieved, we began to move on.

Earlier this year, now in my 30’s and a mother myself, I thought I should mention my mum's history to my GP. He instantly referred me to the Family Breast Cancer clinic and that’s when things started to unravel.

I got a form in the post, requesting my full family history. A few weeks later, I had a chat on the phone and was advised that my current cancer risk score was around 18-21%. High enough that I should consider preventative surgery. She asked if my mum had been screened for PALB2? PALB who? I explained this was the first we’d ever heard of it. My mum got her sample re-tested and a few months later, came the news. She was positive for PALB2. As a family, we were glad. We finally had a tangible reason as to why mum got breast cancer twice.

I didn’t hesitate to push for my own screening. It took 4 months to get an appointment with a Genetic Counsellor and to provide a sample. It took just four weeks to get my result. Via Zoom, sat alone in my bedroom, she kindly told me that I did in fact have PALB2. In that instant, my whole world closed in on me. This heavy feeling of despair placed itself firmly on my shoulders and has stayed there ever since. My Cancer Risk score is now 67%. The odds are most definitely not in my favour.

My logical mind is trying to process my next steps but it’s hard to fight the intrusive thoughts. I’ve always referred to COVID as a boogeyman. It’s out there somewhere, lurking unseen. But the boogeyman now has a new friend.. a little demon living inside of me. Never mind feeling safe outside the house, I don’t even feel safe inside my own body.

Despite this, I am glad I found out because I have a chance to change my fate. I don’t need to follow in my mum’s arse-kicking footsteps and that in itself, is a tiny miracle too.

We're a community of people who have been affected by the gene mutation, PALB2. People who are screened for BRCA1 and BRCA2 should be screened for PALB2 too. It increases the risk of breast, ovarian and pancreatic cancer but not many are aware it exists. This means that many people with a family history of breast, ovarian and pancreatic cancer may be at risk themselves and not know it. We're sharing our stories to create more awareness and save lives.

If you'd like to share your story, please get in touch.