TP53
P53 Tumor Suppressor Gene Analysis Primary tumors that include bone and soft tissue sarcomas, breast cancer, brain cancer, leukemia, childhood adrenocortical tumors, Li-Fraumeni syndrome and other sporadic cancers

DESCRIPTION - Molecular DNA testing

Mutations in the TP53 gene are the causative factors for Li-Fraumeni syndrome (LFS). Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with numerous types of cancer including for example: soft-tissue sarcoma, breast cancer, leukemia, osteosarcoma, melanoma, and cancer of the colon, pancreas, prostate, pancreas, kidney adrenal cortex, brain and other tissues. Its protein product, p53 (also known as protein 53 or tumor protein 53), is a transcription factor encoded by the TP53 gene. p53 is important in multicellular organisms, where it regulates the cell cycle and thus functions as a tumor suppressor that is involved in preventing cancer. As such, p53 has been described as "the guardian of the genome," referring to its role in conserving stability by preventing genome mutation. p53 also plays a critical role in a cell's response to cancer-causing events, such as damage to the DNA sequence.

Individuals with LFS are at increased risk for developing multiple primary cancers. 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. The TP53 gene is located on the short (p) arm of chromosome 17 at position 17p.13.1 and contains 11 exons: one non-coding exon(exon 1) and 10 coding exons (exons 2-11).

Related Tests:  Refer to the other tests in the Oncology section

Test Order Code P53-SCAN

CPT Codes

83891 x 1, 83892 x 10, 83898 x 10, 83903 x 10
Indications For Testing

  • Confirmation of diagnosis of Li-Fraumeni syndrome or other sporadic cancers in symptomatic patients.

  • Predictive testing for asymptomatic individuals, with a 50% risk for Li-Fraumeni syndrome, in which a p53 familial mutation has been identified.

Turn Around Time

 Less than four weeks. Expedited analysis is available upon request for an additional charge.
Specimen Requirements Ship one of the following:

Peripheral Blood
Peripheral blood collection requires a Lavender-top (EDTA) vaccutainer tube available in the DNA Specimen Collection Kit. Keep sample at ambient temperature and ship by overnight courier to arrive at the Molecular Laboratory within 24 hrs after collection of the specimen. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.

  • Adults: 1 tube with 7.0 mL whole blood

  • Children & Infants: 1 tube with 5-6 mL whole blood

Tissue/Tumor Biopsy
Tissue can either be fresh or frozen, and must be shipped on dry ice.

  • Adults: 40-50 mg

  • Children: 25 mg

Formalin-Fixed Paraffin Embedded
5-6 tissue unstained slides (5-10 µM) with one H/E guidance slide. Additional charge if blocks are sent. 

Specimen Kits DNA Specimen Collection Kits can be obtained from Transgenomic Molecular Laboratory.
Shipping and Contact Information Transgenomic Molecular Laboratory
12325 Emmet Street Omaha, NE 68164 USA
Phone: (866) 500-GENE / (866) 500-4363 Fax: (402) 452-5447
E-mail: labservice@transgenomiclabs.com
Test Submission  and Patient Consent Forms

Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended.

Test Methodology DNA is prepared from blood or tissue/tumor biopsy, and exons 2 - 11 of the TP53 gene are amplified by PCR. The subsequent amplicons are scanned for mutations on the WAVE® System using SURVEYOR® Nuclease heteroduplex analysis. Mutations are identified by double-stranded DNA sequencing.
Sensitivity Accuracy – 99% accuracy reported for mutation detection with bidirectional sequencing analysis. Limitations - The methodology will detect mutations located only within the regions defined by the primers. Some sequence alterations detected by this assay will be of unknown clinical relevance. Interpretation of test results should be in the context of the patient’s clinical and family histories, ethnicity, and other laboratory test results.
References

  1. Olivier M, et al. (2003) Cancer Res. 63: 6643-6650.

  2. Varley JM. (2003) Hum. Mutat. 21: 313-320.

OMIM Entries for:

TP53, Li-Fraumeni Syndrome

151623 LI-FRAUMENI SYNDROME; LFS
191170 TUMOR PROTEIN p53; TP53

Note: The performance characteristics of this test were validated by TRANSGENOMIC Molecular Laboratory. The U.S. Food and Drug Administration (FDA) has not approved this test. However, FDA approval is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. TRANSGENOMIC Molecular Laboratory is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.

TRANSGENOMIC MOLECULAR LABORATORY

Phone: (866) 500-GENE/ (866) 500-4363

FAX: (402) 452-5447