ESR1 probe for FISH CE/IVD - Breast and Gynecology pathology
The ESR1 (estrogen receptor 1) gene is located in the chromosomal region 6q25.1 and encodes estrogen receptor alpha (ER). ER expression is one of the most important known factors in the development of breast cancer, and assessing its status by immunohistochemistry is important for determining the use of anti-estrogen receptor therapies. ESR1 gene amplification has been found frequently in ER-positive breast tumors. Additionally, it has been shown very recently for breast cancer patients receiving adjuvant tamoxifen monotherapy that survival is significantly longer in cases of ESR1 gene amplification as determined by FISH compared to immunohistochemically ER-positive cases without gene amplification. Additionally, it has been shown that response to tamoxifen is dependent on the absolute ESR1 copy number. Thus, determination of ESR1 amplification may identify a subgroup of breast cancer patients particularly likely to respond to anti-estrogen therapy
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