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Estrogen receptor variants and mutations

L C Murphy¹, H Dotzlaw, E Leygue

¹Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada. lcmurph@cc.umanitoba.ca

The Journal of Steroid Biochemistry and Molecular Biology

|August 1, 1997

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Variant estrogen receptors (ER) are increasingly found in human tissues, potentially influencing breast cancer. Further research is needed to understand their roles in normal physiology and disease progression.

Area of Science:

Endocrinology
Molecular Biology
Oncology

Background:

Growing evidence supports the existence of variant estrogen receptor (ER) proteins in normal and cancerous estrogen-target tissues, including human breast.
Variant ER expression is a critical factor to consider in future studies of ER signal transduction and protein measurement.

Purpose of the Study:

To review the current scientific literature on the types and characteristics of naturally occurring estrogen receptor variants and mutations.
To explore the potential physiological or pathological roles of ER variants in tissue-specific estrogen action, breast tumorigenesis, and cancer progression.

Main Methods:

Literature review of experimental and clinical data.
Analysis of identified estrogen receptor variants and mutations in tissues and cell lines.

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Main Results:

Numerous variant ER proteins have been identified in various tissues and cell lines.
The specific functions of these ER variants, whether physiological or pathological, remain largely undetermined.

Conclusions:

Variant ER expression is a significant factor in estrogen target tissues and must be considered in future research.
ER variants may play a role in tissue-specific estrogen action and could be implicated in breast cancer development and progression.