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Biological Pathway Reviews

Mutation Type Summary Cancer Type View
AKT

AKT (protein kinase B) is a serine threonine kinase that plays a pivotal role in regulating many cell processes, including survival, proliferation, invasion, apoptosis, and angiogenesis.1 Disruptions in the AKT pathway are associated with cancer, diabetes, cardiovascular and neurological diseases.2 In breast cancer, AKT is disrupted in up to 70% of cases, making it a valua

Breast Cancer View
ALK

ALK is a tyrosine kinase receptor that resides on chromosome 2p23. Chromosomal rearrangements resulting in fusion genes leads to ALK tyrosine kinase that promote cell survival by activating a signaling pathway or by inhibition of apoptosis, which leads to cell proliferation.1

ALCL; Breast Cancer; Colorectal Cancer; DLBCL; Inflammatory Myofibroblastic Tumors; Neuroblastoma; NSCLC View
PIK3CA

PIK3CA (phosphatidylinositol 3-kinase catalytic subunit) is an oncogene that encodes one piece (a subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3-Kinase).1 PIK3CA plays a role in the control of cell growth, cell survival, and cell migration.

Breast Cancer; Lung Cancer; Ovarian Cancer View
BCL2

Tumor cells have many characteristics, including genomic instability and oncogene activation, which should lead to apoptosis.1 In a bid to survive, tumor cells may become dependent on the BCL-2 protein.2 Certain cancer cells will overexpress BCL-2, which in turn impedes apoptosis and facilitates tumor growth and resistance to chemotherapy.3 These mal

ALL; AML; CLL; DLBCL; Follicular Lymphoma; Head and Neck Cancer; Lung Cancer; NSCLC; Prostate Cancer; Solid Tumors View
BCMA

BCMA is a member of the tumor necrosis factor receptor family that is expressed on plasma cells and on late stage normal and malignant B-cells.1 BCMA binds to BAFF, activating the NF-kB and MAPK8/JNK signaling pathways, which leads to the prolif

AML; CLL; DLBCL; Follicular Lymphoma; Hodgkin Lymphoma; Multiple Myeloma; T-cell Lymphoma View
BRAF

Oncogenic mutations in BRAF genes activate the RAF/MEK/ERK pathway, resulting in increased cell proliferation and resistance to apoptosis.1 BRAF mutations have been identified in 7% to 8% of all cancers.2 V600E is the most common activating mutations in BRAF and is associated with more

Colorectal Cancer; Hairy Cell Leukemia; Lung Cancer; Melanoma; Multiple Myeloma; Thyroid Cancer View
BTK

Bruton's tyrosine kinase (BTK), a non-receptor tyrosine kinase, plays an important role in B-cell receptor activation.1 BCR activation results in translocation and phosphorylation of BTK.

Breast Cancer; CLL; Colorectal Cancer; DLBCL; Gastroesophageal Cancer; Glioma; Lung Cancer; MCL; Multiple Myeloma; Ovarian Cancer; Pancreatic Cancer; Prostate Cancer; Thyroid Cancer View
CD19

CD19 antigen is a type I transmembrane glycoprotein that is expressed in normal and malignant B cells.1 It plays a role in B cell development and maturation by modulating B-cell receptor signaling during lymphopoiesis.2,3 CD19 deficiency leads to an impaired humoral response, resulting

ALL; AML; Burkitt’s Lymphoma; CLL; DLBCL; Follicular Lymphoma; Hairy Cell Leukemia; Non-Hodgkin Lymphoma View
CDK4/6

The cell-cycle regulatory proteins CDK4 and CDK6 drive progression through the G1–S phase transition, a checkpoint in preventing abnormal cell proliferaition.1,2 Uncontrolled cell division caused by the dysregulated activation of CDK4/6 is common in cancer.Gene deletion, muta

Breast Cancer; Glioblastoma; Head and Neck Cancer; Liposarcoma; Mantle Cell Lymphoma; Melanoma; Neuroblastoma; NSCLC; Pancreatic Cancer View