Overview

Location [1]
18q21.33
Pathway
Apoptosis
Protein [2]
Apoptosis regulator Bcl-2
Synonyms [1]
Bcl-2, PPP1R50

B-cell CLL/lymphoma 2 (BCL2) is a gene that encodes a protein that functions as an integral outer mitochondrial membrane protein. The protein inhibits the apoptotic death of cell such as lymphocytes. Fusions, missense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as bone cancer, hematopoietic and lymphoid cancer, and stomach cancer.

BCL2 is altered in 0.71% of all cancers with follicular lymphoma, diffuse large B-cell lymphoma, colon adenocarcinoma, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

BCL2 GENIE Cases - Top Diseases

The most common alterations in BCL2 are BCL2 Mutation (0.48%), BCL2 Loss (0.26%), BCL2 Amplification (0.08%), BCL2 A131D (0.02%), and BCL2 R6T (0.02%) [3].

BCL2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BCL2 in Diseases

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Triple-Hit Lymphoma +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Transformed Non-Hodgkin Lymphoma +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Grade 3b Follicular Lymphoma +

High Grade B-Cell Lymphoma With MYC And BCL2 And/Or BCL6 Rearrangements +

Primary Mediastinal B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Burkitt Lymphoma +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Follicular Lymphoma +

EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type +

Non-Hodgkin Lymphoma +

ALK-Positive Large B-Cell Lymphoma +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Diffuse Large B-Cell Lymphoma Activated B-Cell Type +

Intravascular Large B-Cell Lymphoma +

Marginal Zone Lymphoma +

Acute Lymphoblastic Leukemia +

Burkitt Leukemia +

HHV8-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Hodgkin Lymphoma +

Richter Syndrome +

Acute Myeloid Leukemia +

Chronic Lymphocytic Leukemia +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

Multiple Myeloma +

Waldenstrom Macroglobulinemia +

Mature B-Cell Non-Hodgkin Lymphoma +

Malignant Solid Tumor +

Breast Carcinoma +

Invasive Breast Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

EBV-Positive Mucocutaneous Ulcer +

Extranodal Marginal Zone Lymphoma Of Mucosa-Associated Lymphoid Tissue +

Grade 1 Follicular Lymphoma +

Grade 2 Follicular Lymphoma +

Grade 3 Follicular Lymphoma +

Hematopoietic And Lymphoid Malignancy +

Indolent Non-Hodgkin Lymphoma +

Lymphoplasmacytic Lymphoma +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Nodal Marginal Zone Lymphoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Leukemia +

Plasmablastic Lymphoma +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Splenic Marginal Zone Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.