What is it about?
Despite currently available concept, BRCA mutation is an imbalanced defect, crudely inhibiting the upregulation of estrogen receptor (ER) expression and liganded transcriptional activity, whereas ER-repressor functions become predominant. Compensatory high estrogen synthesis may upregulate the interplay between ERs and defective BRCA protein and restores the DNA repairing processes. BRCA-mutation carrier women may apparently be healthy or exhibit clinical signs of deficient estrogen signaling in spite of hyperestrogenism.
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Why is it important?
BRCA gene mutation carrier cells teach us that the defect of liganded ER signaling is hidden behind genomic instability and a compensatory activation of estrogen regulated genes fights for DNA repair even in tumor cells. In BRCA-mutation carriers, defective estrogen signaling is associated with decreased genome stability and induces tumor development with conspicuous specificity for female organs having cyclic proliferative activity, such as the breast, endometrium and ovary.
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This page is a summary of: DNA stabilization by the upregulation of estrogen signaling in BRCA gene mutation carriers, Drug Design Development and Therapy, May 2015, Taylor & Francis,
DOI: 10.2147/dddt.s84437.
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