Study reveals human-specific link between advanced carcinomas and a unique gene

Reviewed by Emily Henderson, B.Sc.Dec 9 2020

Humans are more prone to develop carcinomas compared with our closest evolutionary cousins, the great apes. These cancers begin in the epithelial cells of the skin or the tissue that covers the surface of internal organs and glands, and they include prostate, breast, lung, and colorectal cancers. A new study published in FASEB BioAdvances reveals a human-specific connection between advanced carcinomas and a gene called SIGLEC12.

Additional studies related to this gene, which has several uniquely human features, and the protein it encodes (called Siglec-XII) could potentially lead to broad-based advances in cancer prognostics, diagnostics, and therapeutics.

Siglecs are typically expressed in immune cells, and it was surprising to find Siglec-XII on epithelial surfaces. While a mutant form of Siglec-XII is expressed only in about 30% of normal humans, it was found to be present in a high proportion of advanced carcinomas. This could help explain why humans are more prone to aggressive carcinomas, which are rare in chimpanzees."

Nissi Varki, MD, Co-author, Professor, Pathology, University of California San Diego, School of Medicine