FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Li-Fraumeni syndrome 1
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General Information
Name
Li-Fraumeni syndrome 1
FlyBase ID
FBhh0000341
Disease Ontology Term
Parent Disease
OMIM
LI-FRAUMENI SYNDROME; LFS
Overview

Li-Fraumeni syndrome 1 is a heritable disorder characterized by early onset of tumors, typically multiple tumors and a variety of tumors within an individual. It is an autosomal dominant disorder caused by mutation in the TP53 gene. Information about fly models for human disease related to TP53 can be found in the report "cancer, multiple, TP53-related" (FBhh0000340).

[updated July 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Li-Fraumeni syndrome 1
OMIM report

[LI-FRAUMENI SYNDROME; LFS](https://omim.org/entry/151623)

Human gene(s) implicated

[TUMOR PROTEIN p53; TP53](https://omim.org/entry/191170)

Symptoms and phenotype

LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. [from MIM:151623; 2016.07.07]

(OMIM, 2013-)
Genetics

LFS1 is caused by heterozygous mutation in the TP53 gene (p53). [from MIM:151623; 2016.07.07]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
LFL
LFS
LFS1
Li-Fraumeni-like syndrome
Li-Fraumeni syndrome
sarcoma family syndrome of Li and Fraumeni
SBLA syndrome
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    TP53; tumor protein p53
    D. melanogaster ortholog (based on DIOPT)
    Dmel\p53
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 3 human to 1 Drosophila; additional orthologous human genes are TP63 and TP73.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)