PMKB

Variants

Variant	Gene	Type	COSMIC ID	DNA Change (Coding Nucleotide)	Exon
BCL2 copy number gain	BCL2	CNV
BCL2 copy number loss	BCL2	CNV
BCL2 any mutation	BCL2	any

Interpretations

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Tier 2

Variants

BCL2 copy number gain

BCL2 copy number loss

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

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: 2018-11-12 20:40:32 UTC

Tier 2

Variants

BCL2 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 15:40:04 UTC

Tier 1

Variants

BCL2 copy number gain

Primary Sites

Tumor Types

Diffuse Large B Cell Lymphoma

Interpretation

BCL2 genomic Amplification may be associated with sensitivity to BCL2 inhibitors, however these inhibitors are currently undergoing clinical trials and their efficacy and/or lack of toxicity has not yet been demonstrated.

Last updated: 2018-11-12 20:40:33 UTC