The Chromosomal Basis of Human Neoplasia

TLDR

Chromosomal abnormalities such as translocations, deletions, and occasional trisomies are frequently observed in malignant cells across many tumor types. The study proposes that these chromosomal rearrangements are central drivers of human neoplasia through genomic mechanisms. Translocations may relocate oncogenes next to activating sequences, deletions may remove oncogene repressors, and trisomies can increase oncogene dosage.

Abstract

High-resolution banding techniques for the study of human chromosomes have revealed that the malignant cells of most tumors analyzed have characteristic chromosomal defects. Translocations of the same chromosome segments with precise breakpoints occur in many leukemias and lymphomas, and a specific chromosome band is deleted in several carcinomas. Trisomy, or the occurrence of a particular chromosome in triplicate, is the only abnormality observed in a few neoplasias. It is proposed that chromosomal rearrangements play a central role in human neoplasia and may exert their effects through related genomic mechanisms. Thus, a translocation could serve to place an oncogene next to an activating DNA sequence, a deletion to eliminate an oncogene repressor, and trisomy to carry extra gene dosage.