Beta-2-microglobulin (B2M) is a gene that encodes a serum protein associated with the major histocompatibility complex (MHC) class I heavy chain on cell surfaces. Missense mutations, frameshift deletions, nonsense mutations, synonymous mutations, frameshift insertions, inframe deletions, and complex mutations are observed in cancers such as colon cancer, stomach cancer, and hematopoietic and lymphoid cancers.
B2M is altered in 1.36% of all cancers with colon adenocarcinoma, diffuse large B-cell lymphoma, not otherwise specified, lung adenocarcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in B2M are B2M Mutation (0.43%), B2M Loss (0.27%), B2M M1? (0.17%), B2M X23_splice (0.09%), and B2M X116_splice (0.04%) .
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.