The well-accepted notion that gene amplification contributes to increased expression still remains, after all these years, a reasonable but unproven assumption

Yuping Jia1, Lichan Chen2, Qingwen Jia1, Xixi Dou1, Ningzhi Xu3, Dezhong Joshua Liao4
1Animal Facilities, Shandong Academy of Pharmaceutical Sciences, Ji’nan, Shandong 250101, USA
2Hormel Institute, University of Minnesota, Austin, MN 55912, USA
3Laboratory of Cell and Molecular Biology, Cancer Institute, Chinese Academy of Medical Science, Beijing 100021, China
4Department of Pathology, Guizhou Medical University Hospital, Guizhou, Guiyang 550004, China
DOI: 10.4103/1477-3163.182809

ABSTRACT

“Gene amplification causes overexpression” is a longstanding and well-accepted concept in cancer genetics. However, raking the whole literature, we find only statistical analyses showing a positive correlation between gene copy number and expression level, but do not find convincing experimental corroboration for this notion, for most of the amplified oncogenes in cancers. Since an association does not need to be an actual causal relation, in our opinion, this widespread notion still remains a reasonable but unproven assumption awaiting experimental verification.

Keywords: Cancer, gene amplification, overexpression, translocation