Panels by Genetic Mutation

TP53

The TP53 gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome.

CDKN2A

The CDKN2A gene encodes two proteins, p16 and p14ARF, which act as tumor suppressors by regulating the cell cycle. Changes of CDKN2A have been described in a wide spectrum of cancer types.

APC

The APC gene provides instructions for making the APC protein, a tumor suppressor protein, which acts as an antagonist of the Wnt signaling pathway. Mutations in this gene cause loss of β-catenin regulation, altered cell migration and chromosome instability.

BRAF

The BRAF gene is a human gene that encodes B-Raf, a protein which is part of a signaling pathway known as the RAS/MAPK pathway, which affects cell division, differentiation, and secretion. When the BRAF gene mutated, oncogenes have the potential to cause normal cells to become cancerous.

CTNNB1

The CTNNB1 gene encodes β-catenin, mutations and overexpression of which are associated with many cancers, including hepatocellular carcinoma, colorectal carcinoma, lung cancer, malignant breast tumors, ovarian and endometrial cancer.

RAS

The RAS genes encode GTPases, which act as molecular switches in the cell, regulating signaling pathways and other interactions. Mutations of the RAS genes may be found in some types of cancer. These changes may cause cancer cells to grow and spread in the body. Members of the RAS gene family include KRAS, HRAS, and NRAS.

EGFR

The EGFR gene encodes epidermal growth factor receptor, a transmembrane protein that is a receptor for members of the epidermal growth factor family (EGF family) of extracellular protein ligands. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with many cancer types.

PIK3CA

The PIK3CA gene encodes p110α protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). Somatic mutations in many different human cancers were discovered in the gene encoding for the phosphatidylinositol 3-kinase (PI3K) catalytic subunit, PIK3CA.

PIK3R1

The PIK3R1 gene encodes Phosphatidylinositol 3-kinase regulatory subunit alpha. Mutations in PIK3R1 are implicated in cases of colon, lung, ovarian and breast cancer.

PTEN

The PTEN gene encodes Phosphatase and tensin homolog (PTEN), a protein acts as a tumor suppressor gene through the action of its phosphatase protein product. Mutations of this gene are a step in the development of many cancers.

RB1

The RB1 gene encodes retinoblastoma protein which is a tumor suppressor protein that is dysfunctional in several major cancers. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.

SMAD4

The SMAD4 gene encodes a protein involved in signal transduction of the transforming growth factor-beta superfamily and bone morphogenic proteins by mediating transcriptional activation of target genes. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome.

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