Estrogen Receptor Mutations in Human Disease

As early as the 1800s, the actions of estrogen have been implicated in the development and progression of breast cancer. The estrogen receptor (ER) was identified in the late 1950s and purified a few years later. However, it was not until the 1980s that the first ER was molecularly cloned, and in th...

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Bibliographic Details
Published in:Endocrine reviews 2004-12, Vol.25 (6), p.869-898
Main Authors: Herynk, Matthew H, Fuqua, Suzanne A. W
Format: Article
Language:English
Subjects:
Alternative splicing
Alternative Splicing - genetics
Amino acid sequence
Amino acids
Biological and medical sciences
Breast cancer
Cloning
Disease
Epithelium
Estrogen Receptor alpha - chemistry
Estrogen Receptor alpha - genetics
Estrogen Receptor alpha - physiology
Estrogen Receptor beta - chemistry
Estrogen Receptor beta - genetics
Estrogen Receptor beta - physiology
Estrogen receptors
Estrogens
Exons - genetics
Gynecology. Andrology. Obstetrics
Humans
Isoforms
Mammary gland diseases
Medical sciences
Mental disorders
Mutagenesis
Mutation
Point Mutation
Receptor mechanisms
Receptors
RNA Splicing - genetics
RNA, Messenger - genetics
Tumors
Uterine cancer
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Summary:As early as the 1800s, the actions of estrogen have been implicated in the development and progression of breast cancer. The estrogen receptor (ER) was identified in the late 1950s and purified a few years later. However, it was not until the 1980s that the first ER was molecularly cloned, and in the mid 1990s, a second ER was cloned. These two related receptors are now called ERα and ERβ, respectively. Since their discovery, much research has focused on identifying alterations within the coding sequence of these receptors in clinical samples. As a result, a large number of naturally occurring splice variants of both ERα and ERβ have been identified in normal epithelium and diseased or cancerous tissues. In contrast, only a few point mutations have been identified in human patient samples from a variety of disease states, including breast cancer, endometrial cancer, and psychiatric diseases. To elucidate the mechanism of action for these variant isoforms or mutant receptors, experimental mutagenesis has been used to analyze the function of distinct amino acid residues in the ERs. This review will focus on ERα and ERβ alterations in breast cancer.
ISSN:0163-769X
1945-7189
DOI:10.1210/er.2003-0010