Characteristics of the test: (includes 1 gene)
TP53 (OMIM #191170)
Basic characteristics of the clinical phenotype:
Li-Fraumeni syndrome (LFS; OMIM #151623) is a hereditary cancer syndrome in which single to multiple neoplasias occur at an early age. The most common neoplasias associated with LFS are premenopausal breast cancer, osteosarcoma, rhabdomyosarcoma, adrenocortical carcinoma, and tumors of the central nervous system. Less common are melanoma, gastrointestinal tumors and Wilms tumor. The average age of onset of malignancy in LFS patients is between 20 and 45 years.Li-Fraumeni syndrome is characterized by an autosomal dominant inheritance pattern. It is associated with the carriage of germline mutations in the heterozygous state in the tumor suppressor gene TP53 (located on chromosome 17). This gene encodes a transcription factor p53, which is involved in cell cycle regulation and programmed cell death. Mutations in TP53 can be inherited or arise de novo early in embryogenesis or in one of the parental germ cells. The risk of developing tumors in TP53 mutation carriers has been determined to be ~73% for men and nearly 100% for women.
Indications for referral:
Patient with a history of a tumor belonging to the tumor spectrum of Li-Fraumeni syndrome: soft tissue sarcoma, osteosarcoma, premenopausal breast cancer, central nervous system tumors, adrenocortical carcinoma, leukemia or bronchoalveolar lung cancer - diagnosed before 36 years old.
Method: MLPA (Multiplex Ligation-Dependent Probe Amplification)
MLPA is a semi-quantitative method for determining DNA copy number. The methodology is used to detect intragenic or whole-gene deletions or duplications.
Sensitivity of the method: 90%
What does the test involve?
· DNA isolation and sample storage.
· MLPA to detect deletions/duplications affecting the TP53 gene.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.
Biological material: Fresh or FFPE tumor tissue, or DNA isolated from Fresh or FFPE tumor tissue.
For more information, please read the "Biological material requirements and shipping information" carefully.
