Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-Associated Disorders

About the Study

The LFSBB is a research study that collects blood and other optional samples from individuals with LFS. The goal of this study is to create a large collection of samples for future research projects. This study will ask you for access to medical information, blood samples, saliva samples, stool samples and possibly tissue samples. The researchers will use data and samples from individuals enrolled in LFSBB to study how individuals with LFS unique genes affect cancer risk.

What the Study Involves

If you agree to participate, you will be in this study for as long as you let us follow you. We will continue to update your information approximately every 6 months. The study also involves optional sample collection approximately every 6 months at the Children’s Hospital of Philadelphia (CHOP) or the University of Pennsylvania (PENN). This can include samples collected at outpatient clinic visits conducted in conjunction with your routine medical care. However, an in-person visit to CHOP or PENN is not required for participation in this study. If you are not a CHOP or PENN patient, we will contact you by phone. To coordinate sample collection with clinical care, samples may be collected more frequently than every 6 months, but not more than 6 times per year.

The only required study procedure is the review of medical records and medical history. All other samples mentioned below are optional and you can still participate in the study without them. Samples will not be obtained for the duration of your pregnancy if you become pregnant during the study.

Optional study procedures: You will provide consent for the optional procedures that you wish to complete at the end of the consent form. By consenting to these optional procedures, you agree to give these samples to CHOP and PENN for research purposes. These samples include one (1) blood sample for DNA analysis, serial blood draws (to obtain plasma), saliva sample, hair sample, urine sample, stool samples (up to every 6 months), skin biopsy, and/or tissue collection that may be left over from a biopsy, surgery or other clinical procedure.

We may share your specimens and data with third parties (other researchers/institutions or for-profit companies). Your specimens and data may be used for commercial profit. You will not receive any financial benefit from the use of your specimens or data.

Lead Researchers

University of Pennsylvania
PI: Dr. Kara Maxwell, MD, PhD
Email: [email protected]
Children’s Hospital of Philadelphia
PI: Dr. Suzanne MacFarland, MD
Email: [email protected]

Affected Patient (Group 1)

1. Males or females aged 0 and above.
2. Li-Fraumeni Syndrome, as determined by:

        Reported germline TP53 mutation or variant.

                OR

        Family history of LFS and clinically managed as LFS.

                OR

        Meet LFS/LFL diagnostic criteria including Classic, Chompret, Birch, and Eeles criteria.

     3. Informed consent for capable participants.

               OR

         Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Unaffected Family Member (Group 2)

1. Males or females aged 0 and above.
2. Biological relative of subjects with LFS as determined by germline TP53 mutation or variant, including first degree (siblings, parents) and second degree (grandparents, aunts, uncles) relatives.
3. Negative for germline known familial TP53 mutation or variant.
4. Informed consent for capable participants.

              OR

        Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Household Member (Group 3)

1. Males or females aged 0 and above.
2. Household member of subjects with germline TP53 mutation or variant (LFS), sharing a living space (apartment or free-standing home) for at least 6 months prior to study enrollment.
3. Informed consent for capable participants.

              OR

         Parental/legally authorized representative (LAR) permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

1. Parents/LAR or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
2. Known pregnancy at the time of study enrollment.

Subjects that do not meet all of the enrollment criteria may not be enrolled. Pregnant women will not be actively enrolled, but if a woman becomes pregnant she will not be removed from the study; sample collection will be held during known pregnancy. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.