NORD Publishes New Educational Resource on Li-Fraumeni Syndrome

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Washington, D.C., November 13, 2017—As part of its ongoing series to promote awareness and education regarding rare diseases, the National Organization for Rare Disorders (NORD) has published a report on Li-Fraumeni Syndrome. This new resource is available free online to individuals around the world.

As the primary advocacy organization in the U.S. for people who have rare diseases, NORD provides educational resources for patients, caregivers and medical professionals. Disease-specific reports are developed in collaboration with NORD’s patient member organizations and independent medical experts. The reports can be accessed through NORD’s Rare Disease Database at

“People who have rare diseases often have difficulty finding accurate and easy to understand information about their condition,” said Marsha Lanes, MS, CGC, a genetic counselor and medical editor in NORD’s Educational Initiatives Department. “The purpose of NORD’s free Rare Disease Database reports is to provide information and resources to help those who may be dealing with little-known and misunderstood medical conditions.”

The report on Li-Fraumeni Syndrome (LFS) was developed in collaboration with Holly Fraumeni, Chief Executive Assistant to the President and Robert Lufkin, DO, Scientific & Medical Advisor/Co-Founder of the Li-Fraumeni Syndrome Association, a NORD member organization.

“The volunteer board members, medical advisory board, and genetic counselor advisory group of the LFS Association truly appreciate the opportunity to contribute this report in furtherance of NORD’s efforts in education, awareness, and advocacy of rare disorders,” said Ms. Fraumeni. “Individuals living with Li-Fraumeni syndrome have a risk of approximately 50% to develop cancer by age 40, and up to a 90% chance by age 60, while females have nearly a 100% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer. A diagnosis of LFS is critical for early detection to best treat and potentially save lives from cancer deaths.”

Li-Fraumeni syndrome is an inherited familial predisposition to a wide range of certain, often rare, cancers due to a mutation in a tumor suppressor gene known as TP53. Children and young adults with LFS are susceptible to developing several multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and acute leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as well as in gonadal organs (ovarian, testicular, and prostate.) A diagnosis of LFS is critically important so that affected families can seek appropriate genetic counseling as well as screening for early detection of cancer.

NORD has published more than 1,200 disease-specific reports in its Rare Disease Database. The patient advocates who established NORD considered it a top priority to provide information about rare diseases for patients and their families. As a result, they began to develop the Rare Disease Database shortly after NORD was established in 1983. In the 1990s, when NORD launched a website, the database became available online. The reports are accessed by millions of visitors around the world each year.

“Our goal is to provide resources for every person with a rare disease, whether you are recently diagnosed or further along in your patient journey,” said Ms. Lanes. “We are thankful to Ms. Fraumeni, Dr. Lufkin and the Li-Fraumeni Syndrome Association for their assistance in developing this report.”


About the National Organization for Rare Disorders (NORD)®
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 260 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community.

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