Y chromosome structural and functional changes in human malignant diseases

Abstract

The main Y chromosome abnormalities found in testicular cancer and other malignant diseases are microdeletions, entire chromosome loss and transcription deregulation of several genes mapping in the non-recombinant part of the Y chromosome. Yet, the role of these changes in the origin or evolution of malignancies is uncertain. The Y chromosome has experienced a long and intricate evolutionary history of deleterious, compensatory, and advantageous mutations. It is proposed that the compensatory mechanisms preventing Y decay in cancer cells are no longer working, and that deletions and gene down-expression reflect a very fast process of Y attrition. From this perspective, Y chromosome aberrations, mutations and unbalanced gene expression very likely play no role in the etiology of cell transformation, although in some forms of cancer, Y abnormalities may influence tumor progression.