Resources

 

ABOUT LFS

Li-Fraumeni Syndrome (LFS) is linked to a mutation in the TP53 tumor suppressor gene.  There are many types of TP53 mutations.  People with this mutation have a higher risk of developing cancer over their lifetime.  LFS affects each individual differently, even within the same family.  Some families with LFS have higher rates of cancer incidence, while others do not.

WHO HAS LFS?

While Li-Fraumeni Syndrome does not affect one particular age, gender, or race, half of LFS cancers develop in children.  LFS is usually passed from parent to child, but it can result from a new (de novo) mutation as well.  A parent with LFS has a 50% chance of passing the mutation along to their children.

DO YOU HAVE LFS?

Li-Fraumeni Syndrome might be suspected if you have a personal history of multiple cancers, a family history of cancer or if certain cancers are seen in children or young adults in your family.  The cancers most often seen in LFS are Adrenal, Brain, Breast, Leukemias, and Sarcomas, but LFS cancers can occur anywhere in the body.

SHOULD YOU BE TESTED?

Getting tested for a family cancer syndrome can be a daunting decision.  A genetic counselor can help you weigh the risks and benefits of being tested for the TP53 mutation.  Knowing whether or not you have the mutation can help you and your providers develop a personalized screening regimen designed to detect cancer at the earliest and most treatable stages.  There is no one set protocol for screening LFS cancers, but there are recommendations based on the cancers frequently seen in the syndrome.

If you test positive for the TP53 mutation, it means you have an increased risk of developing cancer.  It does not mean you will get cancer during your lifetime.  There are many varying degrees of LFS and many people with the mutation live long, healthy lives.

LFS FACTS

  • 50% of LFS cancers develop before the age of 30.
  • A woman with LFS has a 90% chance of developing cancer in her life, much of this risk is due to Breast Cancer.
  • People with LFS can develop many cancers over their lifetime.
  • LFS is a dominant trait.  This means if the mutation is passed to a child, their chance of getting cancer is greater than the normal population.
  • Certain childhood cancers are linked to LFS – Choroid Plexus Carcinoma (brain tumors), Sarcomas (including Osteosarcoma), and Adrenocortical tumors.
  • And finally….not all people with LFS get cancer.

Download these facts and information about Living LFS to share with your primary physician, family, and friends.


 

MRI

 

SCREENING

While there is still a psychological cost to learning that you carry a p53 mutation, many find benefit, both physically and psychologically to screening. Screening allows for cancer to be found earlier in more treatable stages, which is empowering. There is also the psychological reassurance that come when nothing remarkable is found.

The following are screening guides that you might take to your local doctor or submit in an appeal to your insurance company if you find that screening is not covered. Your genetic counselor might want to customize the screening recommendations, taking into account your family cancer history.

The Toronto Protocol

The Toronto Protocol was the first screening recommendation proposed for those with LFS and is the most widely used to date. Dr. David Malkin and his team at the Hospital for Sick Kids in Toronto tailored this regimen to detect a wide range of cancers while limiting exposure to ionizing radiation. Although the initial study had a small number of participants, it showed significantly better survival outcomes for those who selected to do screening over those who did not.  In the US, many doctors use this as a screening guide for LFS, but getting insurance to cover scans is sometimes a challenge.

Download the  2011 Toronto Protocol

The 2016 Toronto Protocol Update:

2016-Toronto-Protocol

Watch Dr. David Malkin discuss the Toronto Protocol.

 

LEAD (Li-Fraumeni Education And Early Detection)

MD Anderson recently announced the beginning of a clinic for patients with Li-Fraumeni Syndrome at their cancer center in Houston, Texas.  The Program is called LEAD- Li-Fraumeni Syndrome Education And Early Detection.  Due the risk of many cancers associated with LFS, the LEAD program offers a comprehensive screening plan to detect cancers as early as possible.  The LEAD has an adult department (age 21 and above) as well as separate department and guidelines for children and adolescents (under the age 21).

You may be eligible for LEAD if you have a confirmed diagnosis of Li-Fraumeni Syndrome.
For Questions About LEAD  Contact:  Michelle Jackson

To become part of the LEAD clinic, a person will have to become a patient at MD Anderson and this can be done by calling their New Patient Line at  (713) 792-5410 and ask to be seen at the LFS clinic. If the person has not been tested for a germline TP53 mutation, but is at risk (for example if a family member is positive) they can have genetic counseling and get genetic testing through the LEAD clinic. If the person tests positive for the mutation, they will then be followed by the LEAD clinic and the screening guidelines recommended for them.

MD Anderson NEW PATIENT LINE  (713) 792-5410

 

Click here to learn more about MD Anderson’s LEAD study clinic. 

Download the LEAD PEDIATRIC Screening Program

Download the LEAD ADULT Screening Program


Colleen microscope

CLINICAL TRIALS & STUDIES 

Clinical trials are research studies that people can participate in. It is a way to contribute to medical knowledge while offering the opportunity to receive cutting edge care. Each trial has a unique set of risks and benefits. Federal regulations are in place to ensure the ethics and safety of clinical trials. Listed below are a few LFS specific studies. If you are interested in participating or feel a clinical trial is right for you, be sure to discuss it with your doctor.

** 11/19/15 Update:  The Metformin Study is looking for a few more participants!  Goals of the study are to determine tolerability of metformin in patients with LFS and if daily metformin has any effect on circulating IGF-1, insulin and IGFBP3 levels. chemoprevention.  For more information, visit the Living LFS blog post about the Metformin Study.  Contact:  Farzana L Walcott, M.D. walcottfl@mail.nih.gov  (240) 276-7661  **

 

National Cancer Institute (NCI) – National Institutes of Health (NIH)

The goal of the LFS Study is to evaluate those with known or suspected TP53 mutations and their families. They do this by collecting data, blood and tumor samples to better understand how cancers develop. Includes Physical exam, imaging studies and laboratory tests. Ongoing monitoring and developing effective prevention strategies. Offering risk assessment, counseling, testing and evaluating the psychosocial impact on members of LFS families. Developing evidence based information on how best to care for people affected with or at risk for LFS cancers.

Contact: stephaniesteinbart@westat.com   1-800-518-8474

For more information, visit the Living LFS blog post about this study.

To evaluate and quantify cumulative cancer risk in LFS and LFL individuals, develop a cancer screening program. identify genetic and environmental factors that modify cancer risk, find risk reducing options, evaluate the psychological and social effects of LFS on individuals and family members, to create a biospecimen repository of LFS related materials for research.

Contact:  : Renee C Bremer, bremerrc@mail.nih.gov, (240) 276-7266

Contact: Sharon A Savage, M.D., savagesh@mail.nih.gov, (240) 276-7241

To examine the metabolic and biological factors in people with Li-Fraumeni Syndrome.

Goals of the study are to determine tolerability of metformin in patients with LFS and if daily metformin has any effect on circulating IGF-1, insulin and IGFBP3 levels. chemoprevention.

Contact:  Christina M. Annunziata, M.D.  ca180n@nih.gov  301-402-7189

For more information, visit the Living LFS blog post about the Metformin Study.

Dana-Farber

The purpose of the registry study is to collect information on personal cancer history, family history, and bank specimens from patients and family members with Li-Fraumeni syndrome. The registry aims to create a repository of data and specimens that are made available for researchers who are working to further understand the syndrome and to develop prevention, screening, and treatment recommendations. In addition, the registry provides participants the option to be notified about future research studies that may be of interest to them and their families.

Click here for a printable document about the LFS Registry from Dana-Farber

Contact: Callie Nibecker.  callie_nibecker@dfci.harvard.edu  617-632-4795

This study aims to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI), in patients with these syndromes, to see if cancers can be detected at an early stage which may, in turn, allow for more effective treatment. We have chosen Whole Body MRI scanning because this scan allows doctors to look at the entire body in one examination. In addition, by using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS. The Whole Body MRI study is currently closed for enrollment of adults. New pediatric patients (<18 years) are still being accepted for enrollment into the study.

Click here for a printable document about LFS from Dana-Farber

Contact: Callie Nibecker. callie_nibecker@dfci.harvard.edu  617-632-4795

MD Anderson Cancer Center

For more information, visit the Living LFS blog post about the LEAD Study Group.

  • LFS Study- P90-001

The overall goal of this genetic research study is to find out why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or regions of DNA (the genetic material of cells) affect a person’s risk of getting cancer.

  • Transition from Research to Disclosure Study-BS99-038

To provide research families with comprehensive genetic services: education, counseling and the option of genetic testing and test disclosure. To evaluate the study participants knowledge and impact of counseling and testing on their psychological adjustment to test results.

  • Transition from Research to Disclosure Study-BS99-038

To provide research families with comprehensive genetic services: education, counseling and the option of genetic testing and test disclosure. To evaluate the study participants knowledge and impact of counseling and testing on their psychological adjustment to test results

Memorial Sloan Kettering Cancer Center

PROMPT is an online research registry for patients and families who have undergone multiplex genetic testing and were found to have a genetic variation which may be linked to an increased risk of having cancer. Using a secure online information portal hosted by PatientCrossroads, participants in PROMPT can provide information by completing questionnaires about their personal and family health histories. PROMPT can also be used as a way for participants to receive updates from physicians and researchers regarding their genetic information.

Contact: medprompt@mskcc.org

For more information, visit the Living LFS blog post about this study and a conversation with Dr. Robson!

Huntsman Cancer Center

Contact- Sara Johnson, cgs@hci.utah.edu  801-585-7343

Australian Sarcoma Group

For more information, visit the Living LFS blog post about this study.


Resources Recommended by the Living LFS Community

 

LFS General Information

  • Genetics Home Reference – Information on LFS, testing, and screening.  This site also offers links to educational resource.
  • MD Anderson LFS Fact Sheet – Printable document for your reference.
  • Dana Farber Cancer Genetics – Dana Farber Cancer Genetics Program for LFS.
  • LFS Conference at NIH 2010 – A video of the Conference held at the NIH about LFS, p53 mutations, genetic testing, screening and future goals.
  • The George Pantziarka TP53 Trust – The George Pantziarka TP53 Trust helps families with Li Fraumeni Syndrome and other TP53 disorders.
  • LFSA -LFS Association provides a wide range of information, advocacy, and support services for individuals and families with Li-Fraumeni Syndrome.

Pediatrics

  • Make-A-Wish America – Make-A-Wish® grants the wish of a child diagnosed with a life-threatening medical condition in the United States and its territories.
  • The National Children’s Cancer Society – The National Children’s Cancer Society (NCCS) provides emotional, financial and educational support to children with cancer, their families and survivors.
  • American Childhood Cancer Organization – ACCO helps makes a difference in the lives of the nation’s childhood cancer patients, survivors & their families.
  • Alex’s Lemonade Stand Foundation – ALSF encourages and empower others, especially children, to get involved and make a difference for children with cancer. ALSF raises money and awareness of childhood cancer causes, primarily research into new treatments and cures.
  • Flashes of Hope – Flashes of Hope raises funds to accelerate a cure for children’s cancer while honoring the unique life and memories of every child fighting cancer.

Financial

  • Cancer Financial Assistance Coalition – CFAC is a coalition of organizations helping cancer patients manage their financial challenges.
  • American Cancer Society – Health insurance and financial assistance information for cancer patients.
  • Sparrow Clubs USA – Sparrow Clubs USA exists to set the stage for simple, yet heroic acts of kindness in schools and youth culture, through the concept of empowering kids to help kids in medical need.  Sparrow Clubs USA is primarily a Pacific Northwest charity, serving in the states of Oregon and Washington.

Travel

  • Ronald McDonald House – The mission of Ronald McDonald House Charities (RMHC) is to create, find and support programs that directly improve the health and well being of children.
  • American Cancer Society Hope Lodge – Hope Lodge offers cancer patients and their caregivers a free place to stay when their best hope for effective treatment may be in another city.
  • Joe’s House – Joe’s House is a nonprofit organization providing an online nation-wide list of places to stay to assist cancer patients and their families find lodging near treatment centers.
  • National Patient Travel Center – The National Patient Travel Center provides information about all forms of charitable, long-distance medically-related transportation.
  • Corporate Angel Network – Corporate Angel Network helps cancer patients access the best possible treatment for their specific type of cancer by arranging free travel to treatment across the country using empty seats on corporate jets.
  • Air Charity Network – Air Charity Network coordinates free air transportation for children and adults with medical or compelling humanitarian needs.
  • Healthcare Hospitatlity Network, Inc. – HHN is a nationwide professional association of nonprofit organizations that provide lodging and support services to patients, families, and their loved ones who are receiving medical treatment far from their home communities.
  • Southwest Airlines – Through the Southwest Airlines Medical Transportation Grant Program (MTGP) Southwest provides complimentary, round trip tickets to nonprofit hospitals and medical transportation organizations. Southwest allows participating nonprofit hospitals and medical transportation nonprofit organizations the freedom to determine how to distribute the tickets to patients and/or caregivers.

Support

APOS’ Toll-Free HELPLINE – 1-866-276-7443 (1-866-APOS-4-HELP)

  • Caring Bridge – CaringBridge transforms your personal connections into support when you need it most. By creating a free CaringBridge website, people in a time of need can share updates, photos and videos, connecting with friends and family who care and want to help.
  • Lotsa Helping Hands – Create a care community when you need it most.  With the Help Calendar, you can post requests for support – things like meals for the family, rides to medical appointments, or just stopping by to visit.
  • Maggie’s Centre – Maggie’s Centres are available to anyone with any type of cancer and their families and friends, offering the practical, emotional and social support that people with cancer need.  Centres are located in the United Kingdom only.
  • SuperSibs – SuperSibs Comfort and Care program is free and provides mailings to children ages 4-18 who live in the United States and have (or had) a sibling with cancer. SuperSibs also offers age appropriate bereavement services.
  • Living LFS Online Forums

Young Adults

  • The SAMFund – The SAMFund supports young adult cancer survivors in the United States as they recover from the financial impact of cancer treatment. Through direct financial assistance and free online support and education, The SAMFund helps young adults move forward towards their personal, professional, and academic goals.
  • First Decents – First Descents provides life-changing outdoor adventures for young adults (age 18-39) impacted by cancer.
  • Young Survival Coalition – Young women facing breast cancer together.
  • Genome Generation – Genome Generation encourages conversation with young adults, from all over the world, to understand their family history.

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