Personal Story: Living a full life with Li-Fraumeni syndrome
Summary
This XRAY review is about a five-time cancer survivor who has an inherited mutation in the TP53 gene. People with inherited mutations in TP53 have Li-Fraumeni syndrome, which is linked to a very high lifetime risk for many types of cancer. Here we share his inspiring story and provide more information on Li-Fraumeni syndrome. (Posted 4/16/24)
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RELEVANCE
Most relevant for: People with Li-Fraumeni syndrome.
It may also be relevant for:
- people with a family history of cancer
- people with a genetic mutation linked to cancer risk
Relevance: Medium
What is this personal story about?
Brian Novak is a 51-year-old diabetic who has , a genetic condition that increases the risk of cancer. Novak had colon cancer and testicular cancer in his 30s, leading doctors to recommend genetic testing. The testing revealed that Novak had , and over the past 15 years, he has been treated for five different cancers. Through it all, he remains positive and focused on staying healthy and enjoying life.
Why is this story important?
Brian Novak’s story creates awareness of and other hereditary syndromes linked to cancer. Up to 10 percent of all cancers are estimated to be caused by inherited mutations. Novak’s story inspires people who have/had cancer and those with a personal or family experience with cancer genes to not let cancer or genetics define them.
Two early cancer diagnoses led Novak to consider genetic testing. The results revealed that he has , a rare condition that is passed down through families. Novak resolved not to let cancer or genetics define his life. He consulted with doctors who are experts in inherited cancers, and he works closely with them to monitor his health.
is very rare but causes cancer in most people who have it. People with this syndrome have a mutation in the gene. Healthy genes help stop tumors from forming, while having a mutation or damage in this gene may lead to cancer.
Most people with develop cancer. Cancer can develop at any time from childhood on. The most common cancers among people with include brain, breast, bone, leukemia and sarcomas (cancers of the bone and soft tissues).
Novak has had colon, testicular, lung, kidney and thyroid cancers. After multiple successful treatments, he is now cancer-free. Also diagnosed with type 1 diabetes, Novak has embraced new technology that helps him track his sugar levels and inject insulin more easily. Research has yet to find any connection between autoimmune disorders or diabetes and .
Doctors recommend regular cancer screenings for people with . Novak’s doctors followed the Toronto protocol parts of which were adopted as part of the National Comprehensive Cancer Network cancer screening guidelines. These guidelines recommend regular scans and lab testing to look for new or returning cancers.
Novak has a full-body and a brain scan annually. His screenings led to early diagnosis and aggressive treatment of kidney, thyroid and lung cancers. Novak is also open to new cancer technologies and treatments, such as video-assisted surgery for lung cancer. The advanced procedure left more of his lung intact compared with more traditional surgeries that would have removed more of his lung.
Frequent scans can take a toll on mental health. Novak seeks support as needed, continues to work and finds release in an active outdoor life. Living in Colorado, he enjoys biking, snowboarding and hiking. He also challenges himself physically and connects with other people who have had cancer through mountain climbing with organizations, including First Descents and the CancerClimber Association.
What does this mean for me?
If you have , you may already be taking steps to reduce your risk of cancer and stay as healthy as possible. It is important to follow guidelines for cancer screening and risk reduction and to know the actions guidelines recommend beyond screening.
Reference
Smith, T. He has faced down five cancers and a rare genetic mutation. How to live a great life despite . UC Health Today; Published online August 10, 2023
The genetics of cancer. National Cancer Institute website. Updated August 17, 2022.
Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
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posted 4/16/24
Questions To Ask Your Doctor
- Do you have experience managing care for people with mutations?
- If not, can you refer me to a center that does?
- Do you recommend genetic testing to determine whether I have a hereditary mutation?
- If I test positive for a gene mutation, how will you work with me to prevent cancer or find it early?
- Do you follow national guidelines for monitoring people with ?
Peer support
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
Updated: 08/06/2022
Related resources
The following resources focus on mutations.
- FORCE resources:
- Information: gene mutations overview
- Information: cancer risk
- Information: risk management
- Genetics Home Reference: information about the effects of an inherited mutation
- The National Organization for Rare Disorders (NORD): section on Li-Fraumeni syndrome
- Association
Updated: 03/16/2022