Abstract
Background
An estrogen receptor (ER) α variant with an A-to-G transition at nucleotide 908 (A908G) has been identified in typical hyperplastic mammary epithelium. This somatic mutation, which induces a Lys-to-Arg substitution at residue 303 within exon 4 at the border of the hinge and hormonebinding domains of the ERα, shows increased sensitivity to estrogen compared with wild-type ERα.
Methods
To investigate whether this mutation was present in breast lesions, we performed mutation analyses using the PCR-restriction fragment length polymorphism (RFLP) method in 7 cases of hyperplasia, 18 cases of benign breast tumor, 26 cases of ductal carcinomain situ (DCIS) and 215 cases of invasive ductal carcinoma (IDC). When we extracted DNA, the hyperplastic epithelium and cancer cells of DCIS were microdissected. We also performed direct sequencing analysis from 7 randomly-selected representative cases of hyperplasia, 9 cases of benign breast tumors, 11 cases of DCIS and 20 cases of IDC.
Results
No A908G mutation was found in the ERα gene in these breast lesions.
Conclusion
This mutation might be absent or occur in so few cells as to be undetectable by PCR-RFLP or direct sequencing.
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Reprint requests to Hirotaka Iwase, Second Department of Surgery, Nagoya City University Medical School, Kawasumi 1, Mizuho-ku, Nagoya 467-8601, Japan.
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Zhang, Z., Yamashita, H., Toyama, T. et al. Estrogen receptor α mutation (A-to-G transition at nucleotide 908) is not found in different types of breast lesions from japanese women. Breast Cancer 10, 70–73 (2003). https://doi.org/10.1007/BF02967628
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DOI: https://doi.org/10.1007/BF02967628