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Discovering the causes of cancer and the means of prevention

DCEG Hosts Workshop on Li-Fraumeni Syndrome

March 2011 - Linkage Newsletter

by June Peters, M.S., C.G.C.

 In November, the Clinical Genetics Branch (CGB) of DCEG hosted almost 200 researchers, clinicians, genetic counselors, and members of affected families for a workshop on Li-Fraumeni syndrome (LFS). Joseph F. Fraumeni, Jr., M.D., Director of DCEG, and his colleague Dr. Frederick Li, who recently retired from the Dana-Farber Cancer Institute in Boston, Massachusetts, first described LFS in a 1969 publication identifying four extended families in which many of the family members—adults and children—developed diverse primary cancers.

Participants in the Li-Fraumeni workshop, including researchers, patients and their families, clinicians, and advocates.The goals of the conference were to bring together leaders in research on LFS to share recent clinical and genetic findings, to form a clinical research consortium to pursue promising leads in prevention and early detection, and to empower affected families to help set the research agenda as well as foster the formation of a family support group.

LFS is a rare, inherited condition that predisposes people to a variety of cancers, often with unusually early onset and frequently with multiple cancers in the same person. Typical cancers seen in families with classical LFS are bone and soft tissue sarcomas, breast cancers, brain tumors, leukemia, and adrenocortical cancer. Other families with similar, but not exactly the same, patterns of cancer comprise the category of Li-Fraumeni-like (LFL). Although a significant proportion of families with LFS and some with LFL have mutations in the TP53 gene, which codes for the p53 protein, a tumor suppressor crucial in many cellular processes, the responsible genetic mutations in some families have not yet been identified.

The workshop attendees included approximately 80 individuals from LFS families who gathered to discuss their personal experiences with LFS and to brainstorm about the messages that they wanted to share with researchers and other families. On the following day, the families, clinicians, and scientists met in a plenary session to hear presentations from Dr. Louise Strong of the University of Texas M.D. Anderson Cancer Center in Houston, Texas, who is a pioneering LFS researcher; Dr. David Malkin of the Hospital for Sick Children in Toronto, Canada, who discovered that inherited TP53 mutations were associated with LFS; and other investigators from the United States, Canada, South America, and Europe.

The LFS family members expressed gratitude to the clinical scientists for caring for their families and strongly encouraged all researchers to move forward rapidly with their investigations. "We have to look at this workshop as a gathering of one big family working against this devastating disease to find a cure," said Oliver Wyss, a patient and advocate whose immediate family members have all been affected. Participants also explored the topic of genetic counseling as well as the psychosocial and bioethical aspects of having LFS in the family.

Conference organizers Sharon A. Savage, M.D., and Phuong Mai, M.D., M.S., both of CGB, were enthusiastic about the workshop and the potential for future progress, as was Dr. Fraumeni. "This is an exciting time for research on LFS," he commented. "The new consortium of investigators that pools expertise and resources, combined with the development of an advocacy organization to support families, holds great promise for this important field of study."

An archived video of the full meeting is available online at

CGB is currently accepting referrals for a dedicated LFS clinical research protocol. Additional information about the NCI LFS program and the clinical research workshop can be found at

Li-Fraumeni Syndrome in Brazil

At the recent Li-Fraumeni Syndrome Workshop, Dr. Maria Isabel Waddington Achatz of São Paulo, Brazil, described her fascinating studies of high-risk families in southeastern Brazil. She estimated that in this region, 1 in every 300 people is the carrier of a distinctive founder mutation in TP53—most likely brought to Brazil by a Portuguese settler after the Treaty of Tordesillas in 1494.

Dr. Maria Isabel Waddington Achatz of Sao Paulo, Brazil, traces the route of settlers on a map of the region, and describes her studies of high-risk families in southeastern brazil.