Fran's Story

In 2009, my husband and I had both retired. We decided to move back to the rural area where I was born and raised. When we were settled, I realized that my paternal family genealogy had been pretty well researched by one of my cousins. That left my mother’s side, the McCarter family, without a complete history. Someone had already produced a xeroxed family history, but it had no index, page numbers or even family tree. So researching the McCarters became one of my primary projects.

 

My local cousins knew I was doing this research. When they got medical diagnoses, they would often call to ask if other family members had the same condition. In 2019, my cousin Linda called. She was very upset. Her 32-year-old daughter Lisa had just been diagnosed with breast cancer but tested negative for BRCA1 and BRCA2, which we had heard of before. She had a variant of PALB2, which was new to us. At that moment, we didn't know whether Linda or her husband had passed on the variant. Linda was too busy caring for Lisa and the grandchildren to be tested.

 

Then I got a message from 23andMe indicating I had a new genetic match, and I logged in to see who my cousin was. I recognized the name immediately. I had seen it in the xeroxed McCarter family history. I had even met her mother when I was a child, over six decades before. This cousin had posted that she was diagnosed with a pathogenic PALB2 variant and triple negative breast cancer. Chills ran down my spine. She and Lisa were second cousins. They shared a great-grandparent. It seemed that Linda was the carrier.

 

That apparently was not enough evidence to spur me to be tested. It still did not dawn on me that I was at risk. My mother never had breast cancer, nor any of my sisters. And I was already 76 years old—decades older than my relatives when they developed the disease. I figured I had miraculously escaped.

 

When it came time for my routine mammogram in 2020, I found out that I should have worried. A small suspicious area was identified. I hadn’t quite put together that this could be tied to PALB2—I thought my cancer was the typical postmenopausal estrogen-dependent cancer. Biopsy results showed triple negative breast cancer. I told my oncologist about the variant and my uncle’s pancreatic cancer, and she said, “We’re going to test that.” The genetic analysis showed that I had the variant PALB2 C3116del. I was stunned, but I also felt that I should have known. 

 

During this time, I continued working on my McCarter family history. I came across a link to an online seminar on genealogy, and I decided to attend. The seminar was presented by Dr. Brian Shirts of ConnectMyVariant. I found it fascinating that we can use genealogy to give people a heads-up about hereditary disease, and they can make their own decisions about what they want to do. 

 

Linda and I used our family tree to find relatives who might be at risk of carrying the PALB2 variant. We knew the variant must have come from one of our maternal grandparents, though we didn’t know which one. Each of their descendents could potentially have inherited the variant. Linda created a document with a list of their 29 grandchildren plus other close relatives. We contacted most of these people, adding their genetic testing and medical information to the document.

 

One cousin’s daughter showed the document to her doctor, who immediately called in a geneticist. She fortunately tested negative. Based on our group medical history, other family members opted to get tested, too. Those that inherited the variant were able to make decisions about their preventative care.

 

I learned to be gentle with people who chose not to be tested. Pressure is not productive. One relative stopped all contact with me and Linda because she was tired of hearing us talk about testing and cancer. It took me years to regain contact with her.

 

Each person has the right to do what they feel is best. You don’t want to be so forceful that you scare someone away from considering whether or not to be tested. Somebody may say, “I don't want to be tested now.” If you give them peace and time to think about it, they may come back and say, “Yes, I will do it.”

 

We figured out which grandparent carried the variant in a way I would never have expected. As I did research on the website Find a Grave, I saw that Linda’s father was incorrectly listed as dead. A woman named Laurie had made the listing; I emailed her to let her know. Laurie turned out to be my second cousin once removed. We started texting and talking, and she told me that she had been diagnosed with breast cancer at age 62. She had the same variant.

 

The variant must have passed through an ancestor that Laurie and I had in common, and we were related on my maternal grandmother’s side. This discovery clarified who was at risk—I now knew that my grandfather’s second wife’s family was not in danger. After a bit of research, Laurie and I found that one of my second great-grandparents carried the variant. We had traced it back another generation.

 

The task of tracking our family’s medical history became much bigger. ConnectMyVariant put us in touch with the Brigham Young University Family History Center to help. We gave the center access to our family trees so the genealogists there could search for at-risk relatives. They found more family members on Laurie’s side who could potentially have inherited the variant, and Laurie contacted those relatives.

 

I am now a variant champion at ConnectMyVariant. When someone with my PALB2 variant signs up, I email them. I give them my phone number in case they want to talk. In ConnectMyVariant, there are about 15 of us with PALB2 C3116del. To date, Linda, Laurie and I are the only ones known to be related. Others in the group have similar backgrounds, and we may be related further back than our family histories currently reach. I encourage the others to send their family trees to the BYU Family History Center so the genealogists can look for connections among us.

 

I’ve been called the poster child for genetic testing because, at 76, I thought I was home free since my family members with this variant and breast cancer were in their thirties and early forties when they were diagnosed. I think a more appropriate appellation would be that I am the poster grandma. Please do not assume that you have escaped inheriting a gene mutation unless testing confirms this. I believed that I was past the age of risk. Had I been tested, I could have opted for a double mastectomy. I could have avoided the ravages of chemotherapy and many moments of fear and terror. Thanks to genealogy and genetic testing, several of my family members have been able to avoid these experiences.