Li-Fra-What?

IMG_2502LBBC guest blogger Kate Crawford’s family was no stranger to cancer of all types, but after she was diagnosed at the age of 28 with HER2 + metastatic breast cancer the family started to wonder if genetics were to blame and urged her to undergo genetic testing. Today she shares her story on making the decision to have genetic testing and how that affected her and her family, including her young children. 

I was 28. I had no family history of breast cancer, but had a family history of cancer in general. My mother was diagnosed with thyroid cancer at 27, my grandmother died as a result of an incurable brain tumor and my grandfather had pancreatic cancer. One thing everyone pondered when I was diagnosed was: why? Why would an overall healthy young woman present with metastatic breast cancer? It is an extremely personal decision to have genetic testing. More than half of gene mutations are hereditary which means a diagnosis of an abnormality may mean your mother, sister, niece, cousin or your child could also be at risk.
I was worried about my children and decided to meet with the oncology genetic counselor in early 2013. It was one of the most informative meetings I had concerning my diagnosis. She explained to me how genetics play a role in cancer. Genes are fragments inside of cells, which are in chromosomes, and made of DNA. DNA contains the instructions for building proteins, which controls the how the cells make up your body. If there is a mistake in one of your genes, those cells will not grow and function properly which can lead to genetic abnormalities, like being more prone to develop certain cancers. She suggested that I be tested for the popular BRCA 1 & 2 gene mutations. A simple blood test and a little bit of waiting revealed that I was negative for a BRCA abnormality. “I would like to have you tested for one more thing.” she quietly stated, “Li-Fraumeni Syndrome”. “Li-Fra-what?” I asked.

Li-Fraumeni Syndrome is a mutation in your p53 gene. The p53 gene is a tumor suppressor gene and when mutated, it does not properly stop cell growth and tumors develop. LFS is normally hereditary, very rare and extremely complicated mutation. It increases the risks of developing several types of childhood and young adult cancers, including breast cancer. In April of 2013, I got the call that my test was positive for a p53 gene mutation. I thought I’d be happy to know what caused my cancer; I could finally stop worrying about everything that has been linked to cancer. Except, I wasn’t happy. I was concerned for my family, especially my children. I urged my parents to be tested as well but they were both negative. It turned out that I was de novo, meaning that I was the first one in a family to have the alteration in their genes. It still meant that I had a 50% chance of passing it on to my children. Thankfully, all three of my children tested negative for LFS. It was a day we celebrated and I shed tears of joy over.

Overall, I’m glad I was tested. Having LFS can make treating cancer problematic as it requires certain testing, preventative measures and careful monitoring. It is suggested that only facilities that are knowledgeable about the syndrome provide care to these patients but I now know this and can plan and make decisions accordingly.

You can learn more about Li-Fraumeni Syndrome from the LFS Association www.lfsassociation.org.

Kate is a wife and mother to 3 young children. She was diagnosed with metastatic breast cancer at 28. Despite her prognosis, Kate finds time to live her life to the fullest and inspires others to do the same. She chronicles her journey at www.thechroniclesofcancer.com.

Did you know about  5– 10 percent of breast cancers are hereditary, caused by abnormal genes passed from parent to child? Please join LBBC for our free webinar on August 11th at 12pm ET for an informative presentation on hereditary breast cancer by, Jennifer R. Klemp, PhD, MPH, MA. She will help you understand some of today’s most compelling information about hereditary breast cancer risk, discover the benefits and limitations of genetic testing and learn how test results can help you make informed decisions. Register here

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2 Responses to “Li-Fra-What?”

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  2. Care Across Says:

    Hi Kate,

    Your decision to visit an oncology genetic counselor was a wise one, and may make a huge difference going forward.

    One can only imagine the relief when your parents’ and children’s tests came out negative.

    Stay optimistic, keep blogging, keep celebrating!

    PS Your parents and children are wise too – not everyone wants to be tested for something like this…

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