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

Inclusion Criteria

• AFFECTED PATIENT: Males or females aged 0 and above
• AFFECTED PATIENT: Li-Fraumeni Syndrome, as determined by: * Confirmed germline TP53 mutation or variant OR * Family history of LFS and clinically managed as LFS OR * Meet LFS/Li-Fraumeni-like (LFL) diagnostic criteria including Classic, Chompret, Birch, and Eeles criteria
• AFFECTED PATIENT: 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: Males or females aged 0 and above
• UNAFFECTED FAMILY MEMBER: 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
• UNAFFECTED FAMILY MEMBER: Negative for germline known familial TP53 mutation or variant
• UNAFFECTED FAMILY MEMBER: 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: Males or females aged 0 and above
• HOUSEHOLD MEMBER: 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
• HOUSEHOLD MEMBER: 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

Exclusion Criteria

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