Genes
TP53 (exons 2-11)

Disease:
Li-Fraumeni Syndrome, breast cancer, osteosarcoma, soft tissue sarcoma, some leukemias and lymphomas, papilloma of choroid plexus, brain cancer, adrenal cortical tumors, colon cancer, ovarian, esophageal cancers, lung cancer, myelodysplastic neoplasm,and Chronic Lymphocytic Leukemia

Tumor Protein P53: This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains.
Next generation sequencing of gene panel. TP53 mutations are universal across cancer types. The loss of a tumor suppressor is most often through large deleterious events, such as frameshift mutations, or premature stop codons. In TP53 however, many of the observed mutations in cancer are found to be single nucleotide missense variants. These variants are broadly distributed throughout the gene, but with the majority localizing in the DNA binding domain. There is no single hotspot in the DNA binding domain, but a majority of mutations occur in amino acid positions 175, 245, 248, 273, and 282. To fulfill its proper biological function four TP53 polypeptides must form a tetramer which functions as a transcription factor, therefore even if one out of four polypeptides has inactivating mutation it may lead to dominant negative phenotype of variable degree. Germline TP53 mutations are the hallmark of Li-Fraumeni syndrome, and many (both germline and somatic) variants have been found to have a prognostic impact on patient outcomes.

Collection:
Specimen should contain atleast 0.5 mL of EDTA, citrate (ACD) or Heparinized bone marrow and peripheral blood specimens

Stability:
96hours/4 to 7 days refrigerated

Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant.Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.