Population genetics meets cancer genomics

Abstract

There is a broad consensus that genetic alterations of normal body cells are the basis of cancer progression. Throughout the lifetime of an individual, her or his cells have to divide often, which is associated with occasional genetic changes. Some of the changes lead to uncontrolled cell proliferation and, at later stages of cancer progression, to blood vessel formation in the tumor tissue and distribution of tumor tissue across the body. The molecular genetics of cancer is a very advanced field: Many genetic alterations that predispose an individual to a certain cancer have been identified, and specific genetic pathways of cancer development have been elucidated (1). More recently, studies have been conducted on the scale of the entire genome to identify cancer-associated mutations (2–5). However, our understanding of the population genetic aspects of cancer development, that is, those aspects that relate to the dynamics of cancer cell replication, survival, and evolution, have not yet caught up with the advances in molecular genetics. A study by Bozic et al. (6) in PNAS brings the understanding of the population genetics of cancer cells closer to the edge defined by recent studies of the molecular genetics and genomics of various cancers.