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Li-Fraumeni syndrome



Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. 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.

The TP53 gene provides instructions for making a protein called tumor protein p53. This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing too fast or in an uncontrolled way.

Tumor protein p53 is located in the nucleus of cells throughout the body, where it binds directly to DNA. When the DNA in a cell becomes damaged by agents such as toxic chemicals, radiation, or UV rays from sunlight, this protein plays a critical role in determining whether the DNA will be repaired or the damaged cell will self-destruct. If the DNA can be repaired, tumor protein p53 activates other genes to fix the damage. If the DNA cannot be repaired, this protein prevents the cell from dividing and signals it to undergo destruction. This process prevents cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors. Because mutations of the TP53 gene can inactivate tumor protein 53 patients who possess this mutation are predisposed to cancer development with an increased risk of developing a malignant tumor by age 50.  

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 code Q99.8

Test Requisition: Sequencing Requisition

CPT Code: 81405 Cost: $840.00

Turn-around-time: 5-6 weeks

Specimen Requirements

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1. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. (2003) “Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype”. Cancer Res. 15;63(20):6643-50.

2. Sengupta S, Harris CC. (2005) “p53: traffic cop at the crossroads of DNA repair and recombination”. Nat Rev Mol Cell Biol. 6(1):44-55. Review.

3. Moule RN, Jhavar SG, Eeles RA. (2006) “Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management”. Fam Cancer 5(2):129-33. Review.




Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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