Associated Genetic Biomarkers

Overview

Gene Location [1]
18q21.33
Pathway
Apoptosis
Gene
BCL2

BCL2 Mutation is present in 0.41% of AACR GENIE cases, with follicular lymphoma, diffuse large B-cell lymphoma, lung adenocarcinoma, colon adenocarcinoma, and B-cell non-hodgkin lymphoma having the greatest prevalence [4].

Top Disease Cases with BCL2 Mutation

Significance of BCL2 Mutation in Diseases

Follicular Lymphoma +

Mature B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Burkitt Lymphoma +

Double-Hit Lymphoma +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Peripheral T-Cell 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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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