PMKB

EP300 any mutation

Gene	EP300
Variant	any
Transcript ID (GRCh37/hg19)	ENST00000263253
Germline/Somatic?	Somatic

Pertinent Negative In

Tumor Type	Primary Site

See All Pertinent Negatives

Interpretations

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Tier 2

Variants

EP300 any mutation

Tumor Types

Acinar Cell Carcinoma

Acinic Cell Carcinoma

Acute Myeloid Leukemia

Adenoid Cystic Carcinoma

Ameloblastic Tumor

Anaplastic Large Cell Lymphoma

Angioimmunoblastic T-Cell Lymphoma

Angiomatoid Fibrous Histiocytoma

Astrocytoma, Anaplastic

Atypical Chronic Myeloid Leukemia

B Lymphoblastic Leukemia/Lymphoma

Basal Cell Carcinoma

Burkitt Lymphoma

Carcinoid Tumor

Cholangiocarcinoma

Choriocarcinoma

Chromophobe Renal Cell Carcinoma

Chronic Lymphocytic Leukemia

Chronic Myeloid Leukemia

Chronic Myelomonocytic Leukemia

Chronic Neutrophilic Leukemia

Classical Hodgkin Lymphoma

Clear Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Craniopharyngioma

Dermatofibrosarcoma

Desmoplastic Small Round Cell Tumor

Diffuse Large B Cell Lymphoma

Ductal Carcinoma

Essential Thrombocythemia

Follicular Carcinoma

Follicular Lymphoma

Gastrointestinal Stromal Tumor

Germ Cell Tumor

Giant Cell Tumor

Granular Cell Tumor

Hairy Cell Leukemia

Hemangioendothelioma

Hepatocellular Carcinoma

Histiocytic and Dendritic Cell Neoplasms

Invasive Ductal Carcinoma

Langerhans Cell Histiocytosis

Lobular Carcinoma

Lymphoplasmacytic Lymphoma

Malignant Mullerian Mixed Tumor

Mantle Cell Lymphoma

Marginal Zone B Cell Lymphoma

Mast Cell Neoplasm

MDS with Ring Sideroblasts

Medullary Carcinoma

Medulloblastoma

Merkel Cell Carcinoma

Mucinous Adenocarcinoma

Mucinous Tumors of Ovary

Mucoepidermoid Carcinoma

Myelodysplastic Syndrome

Myeloproliferative Neoplasm

Myxofibrosarcoma

Nasopharyngeal Carcinoma

Neuroendocrine Carcinoma

Neuroendocrine Neoplasm

NK Cell Lymphoproliferative Disorder

Non-Small Cell Lung Carcinoma

Oligodendroglioma

Papillary Carcinoma

Papillary Renal Cell Carcinoma

Peripheral T Cell Lymphoma

Pheochromocytoma

Plasma Cell Disorder

Polycythemia Vera

Post-Transplant Lymphoproliferative Disorder

Primary Myelofibrosis

Primitive Neuroectodermal Tumor

Renal Cell Carcinoma

Rhabdomyosarcoma

Serous Carcinoma

Sex Cord Stromal Tumor

Small Cell Carcinoma

Solid Pseudopapillary Tumor of Pancreas

Spindle Cell Neoplasm

Squamous Cell Carcinoma

T Cell Lymphoproliferative Disorder

T Lymphoblastic Leukemia/Lymphoma

T-Cell LGL Leukemia

Thymic Carcinoma

Urothelial Carcinoma

Tumors of Peripheral Nerves

Ependymoma, Anaplastic

Astrocytoma, Pilocytic

Neuroepithelial Neoplasm, NOS

Pleomorphic Carcinoma

Solitary Fibrous Tumor

Neuroepithelial neoplasm, high grade

Other Acute Leukemia

Astrocytoma, NOS

Acute Leukemia of Unspecified Cell Type

Anemia, Unspecified

Astrocytoma, Diffusely Infiltrating

Diffuse Midline Glioma

Infiltrating Glioma, NOS

Intraductal Papillary Mucinous Neoplasm (IPMN)

Lymphadenopathy

Lymphocytosis, Symptomatic

Monoclonal Gammopathy

Mucinous or Serous Cystic Neoplasms of Pancreas

Mycosis Fungoides, Unspecified Site

Oligodendroglioma, Anaplastic

Pleomorphic Xanthoastrocytoma

Rash and Other Nonspecific Skin Eruption

Thrombocytopenia, Unspecified

Myelodysplastic/Myeloproliferative Neoplasm

Myeloid Neoplasm

Hurthle Cell Carcinoma

High Grade Glioma

Undifferentiated Sarcoma

Interpretation

This gene is a known cancer gene.

Last updated: 2018-05-17 15:40:15 UTC

Tier 2

Variants

EP300 any mutation

Interpretation

EP300 is a histone acetyltransferase and transcriptional coactivator. Somatic mutations of EP300 have been described in cases of T cell acute lymphoblastic leukemia and other lymphoid malignancies including diffuse large B cell lymphoma and follicular lymphoma. Occasional splice site mutations have also been described which are not detected by this assay. EP300 mutations have also been described in the Rubinstein-Taybi developmental syndrome.

Last updated: 2019-08-28 14:54:02 UTC