Estrogen receptor α mutation (A-to-G transition at nucleotide 908) Is not found in different types of breast lesions from Japanese women

被引：18

作者：

Zhenhuan Zhang

Hiroko Yamashita

Tatsuya Toyama

Yoko Omoto

Hiroshi Sugiura

Yasuo Hara

Nobuhiro Haruki

Shunzo Kobayashi

Hirotaka Iwase

机构：

[1] Second Department of Surgery, Nagoya City University Medical School, Mizuho-ku, Nagoya 467-8601

[2] Department of Surgery, Higashi Municipal Hospital of Nagoya

来源：

Breast Cancer | 2003年 / 10卷 / 1期

关键词：

Breast cancer; Estrogen receptor alpha; Mutation;

D O I：

10.1007/BF02967628

中图分类号：

学科分类号：

摘要：

Background: An estrogen receptor (ER) α variant with an A-to-G transition at nucleotide 908 (Ag08G) 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 ER a, shows increased sensitivity to estrogen compared with wild-type ERa. 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 carcinoma in 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 Ag08G mutation was found in the ERa gene in these breast lesions. Conclusion: This mutation might be absent or occur in so few cells as to be undetectable by PCRRFLP or direct sequencing.

引用

页码：70 / 73

页数：3

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