Chromosome and Genome Analysis in Cancer

We have focused in this chapter on constitutional chromosome abnormalities that are seen in most or all of the cells in the body and derive from chromosome or regional mutations that have been transmitted from a parent (either inherited or occurring de novo in the germline of a parent) or that have occurred in the zygote in early mitotic divisions.

However, such mutations also occur in somatic cells throughout life and are a hallmark of cancer, both in hematological neoplasias (e.g., leukemias and lymphomas) and in the context of solid tumor progression. An important area in cancer research is the delineation of chromosomal and genomic changes in specific forms of cancer and the relation of the breakpoints of the various structural rearrangements to the process of oncogenesis. The chromosome and genomic changes seen in cancer cells are numerous and diverse. The association of cytogenetic and genome analysis with tumor type and with the effectiveness of therapy is already an important part of the management of patients with cancer; these are discussed further in Chapter 15.