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Li Fraumeni

Gene name / Alternate gene name



Tumour protein p53

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment

Deletion/duplication analysis via MLPA; Sequencing

Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA

Extracted DNA will not be accepted for the MLPA portion of this test.

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for MLPA testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Li Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous cancer syndrome associated with a wide spectrum of tumours occurring in children and young adults. LFS is caused by mutations in the TP53 gene which has been localized to chromosome 17p13.1. Germline mutations in the TP53 gene predispose individuals to various tumours associated with LFS including early onset sarcomas and breast cancer, osteosarcomas, brain cancer, leukemia and adrenal cortical carcinoma. Other cancers that have been seen in LFS families include lymphoma, melanoma, and cancers of the lung, stomach, ovary, colon/rectum, endometrium, thyroid, pancreas, prostate, and cervix. For individuals with an identified TP53 mutation the risk of developing any invasive cancer is approximately 50% by age 30 and almost 90% by age 70.

LFS is diagnosed in individuals who meet the established clinical criteria and/or are found to carry a TP53 mutation. The “classic” clinical criteria used to diagnose LFS includes: one patient with sarcoma diagnosed under the age of 45, a first-degree relative under the age of 45 with cancer (type not specified) and a third affected first or second-degree relative with either sarcoma at any age or cancer (type not specified) under the age of 45.

Individuals who do not meet the classic criteria may meet one of the following, less stringent criteria. The modified inclusion criteria for Li-Fraumeni-like syndrome (Birch’s criteria) is a proband with any childhood cancer or sarcoma, brain tumor, or adrenal cortical tumor diagnosed before 45 years of age, a first or second-degree relative with a typical LFS cancer at any age, and a first- or second-degree relative with any cancer under the age of 60 years.

Incomplete LFS criteria (Chompret’s criteria) includes a child with adrenocortical carcinoma or choroid plexus carcinoma AND a 1st—or 2nd-degree relative with early onset cancer of any kind OR child with rhabdomyosarcoma diagnosed < 3 years of age OR child with osteosarcoma diagnosed < 10 years of age OR proband with early onset multiple synchronous or metachronous cancers, at least one of which is a typical LFS tumor OR patient with early-onset breast cancer (< 45 years) with at least 1 1st- or 2 2nd-degree relatives with cancer diagnosed under age 45 OR any family with numerous cancers in the same parental lineage that have a broad spectrum of cell type lineage (i.e. carcinomas, sarcomas, leukemias, neural crest tumors).

Germline mutations in the TP53 gene have been identified in 80% of families meeting the classic LFS clinical criteria and approximately 95% can be detected by sequencing analysis. Genetic testing can be used to identify relatives at high risk for developing cancer and allow for increased surveillance for LFS-related cancers in those identified to carry a mutation. An individual is at high risk for developing an invasive LFS-related cancer when s/he has inherited one copy of the altered TP53 gene.

See related information sheet: Li-Fraumeni Syndrome

Disease condition

Li-Fraumeni Syndrome

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