BCL2-like 1 (BCL2L1) is a gene that encodes a protein that is a member of the BCL-2 family. The protein functions in the regulation of outer mitochondrial membrane channel (VDAC) opening - a mechanism that regulates mitochondrial membrane potential and, ultimately, the induction of apoptosis. Fusions, rearrangements, Missense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, esophageal cancer, and lung cancer.
BCL2L1 is altered in 1.08% of all cancers with colon adenocarcinoma, rectal adenocarcinoma, lung adenocarcinoma, high grade ovarian serous adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in BCL2L1 are BCL2L1 Amplification (0.88%), BCL2L1 Mutation (0.28%), BCL2L1 T216M (0.03%), BCL2L1 E202K (0.01%), and BCL2L1 R209H (0.01%) .
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 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.