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Observing People and Families Affected by Li-Fraumeni Syndrome (TP53 Mutation )

Clinicaltrials.gov identifier:
NCT01443468

Surveys, Registries, Interviews
Registry for people with Li-Fraumeni syndrome (LFS) or from LFS families

Study Contact Information:

For additional information, please contact:

NCI Family Study Referrals (800) 518-8474 [email protected]

Payal P Khincha, M.D. (240) 276-7267 [email protected]

Studying People and Families Affected by Li-Fraumeni Syndrome (TP53 Mutation )

About the Study

The goal of this study is to identify whether Li-Fraumini syndrome (LFS), which has a high lifetime cancer risk, has any other causes besides the mutation. Researchers want to understand the function of the mutation(s) observed in those with LFS, and  factors that contribute to LFS cancers. This study involves people with and people from families with filling out questionnaires with their medical information.

What the Study Involves

Participants will be asked to:

  • Complete questionnaires about their health and family history
  • Sign a waiver to allow researchers to access and review your medical record information.

Participants may also be asked to complete additional tests or questionnaires to measure stress, anxiety, level of exercise, and coping mechanisms. These tests may include brief exams that measure a person’s mental or behavioral habits, blood tests, cheek swabs, imaging scans, and other doctor-recommended examinations.

People are encouraged to participate in all aspects of the study but can choose to opt out of specific parts.

Participants do not have to travel to the study site to participate.  

Study Sites

Maryland

Bethesda
National Cancer Institute-Shady Grove
Contact: Payal Khincha, M.D. 240-276-7267  [email protected]

Bethesda
National Institutes of Health Clinical Center
Contact: For more information at the Clinical Center contact National Cancer Institute Referral Office 888-624-1937

 

This Study is Open To:

Adults and children with any of the following may enroll:

  • personal history of cancers consistent with the diagnosis of (LFS) or Li-Fraumeni-Like Syndrome (LFL), including breast, soft tissue sarcoma, adrenal, bone, pancreatic, gastric, colorectal and brain cancers.
  • family history of cancers consistent with the diagnosis of LFS or LFL syndrome, including breast, soft tissue sarcoma, adrenal, bone, pancreatic, gastric, colorectal and brain cancers
  • had genetic testing and is positive for an inherited mutation
  • first-or of a mutation (eg. blood related aunt, uncle, grandma, grandpa, niece, nephew)
  • personal history of three or more LFS-related cancers, including breast, soft tissue sarcoma, adrenal, bone, pancreatic, gastric, colorectal and brain cancers
  • personal history of adrenal cortical carcinoma (the adrenal gland is located on top of each kidney) diagnosed at any age
  • personal history of choroid plexus carcinoma (rare brain cancer diagnosed mostly in children) diagnosed at any age
This Study is Not Open To:

People cannot participate if:

  • their personal or family diagnoses of cancer or mutation cannot be verified
  • they have a medical or psychiatric disorder which the study physician feels would hinder their ability to participate in clinical research
  • they are pregnant 
  • people who become pregnant throughout the study will need to discontinue the cancer screening protocol component of the study but can continue after they are no longer pregnant