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 0.82% of all cancers with lymphoma, colorectal adenocarcinoma, non-small cell lung carcinoma, breast carcinoma, and pancreatic exocrine neoplasm 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 +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Triple-Hit Lymphoma +

Transformed Lymphoma +

Follicular Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

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

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

Non-Hodgkin Lymphoma +

Burkitt Lymphoma +

Grade 3b Follicular Lymphoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

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

Primary Central Nervous System Lymphoma +

Hodgkin Lymphoma +

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

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

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Intravascular Large B-Cell Lymphoma +

Lymphomatoid Granulomatosis +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

Richter Syndrome +

Mature B-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

ALK-Positive Large B-Cell Lymphoma +

Acute Myeloid Leukemia +

Burkitt Leukemia +

Extranodal Marginal Zone Lymphoma Of Mucosa-Associated Lymphoid Tissue +

Hematopoietic And Lymphoid Malignancy +

Lymphoplasmacytic Lymphoma +

Malignant Solid Tumor +

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

Multiple Myeloma +

Nodal Marginal Zone Lymphoma +

Peripheral T-Cell Lymphoma +

Primary Effusion Lymphoma +

Splenic Marginal Zone Lymphoma +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.