1. Estrogen receptor α mutation (A-to-G transition at nucleotide 908) is not found in different types of breast lesions from japanese women
- Author
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Tatsuya Toyama, Hirotaka Iwase, Hiroshi Sugiura, Shunzo Kobayashi, Yoko Omoto, Nobuhiro Haruki, Hiroko Yamashita, Yasuo Hara, and Zhenhuan Zhang
- Subjects
Adult ,Estrogen receptor ,Breast Neoplasms ,Biology ,medicine.disease_cause ,Polymerase Chain Reaction ,Breast Diseases ,Breast cancer ,Germline mutation ,Asian People ,Japan ,medicine ,Humans ,Pharmacology (medical) ,Radiology, Nuclear Medicine and imaging ,skin and connective tissue diseases ,Estrogen receptor beta ,Aged ,Mutation ,Transition (genetics) ,Carcinoma, Ductal, Breast ,Sequence Analysis, DNA ,General Medicine ,Middle Aged ,Hyperplasia ,medicine.disease ,Carcinoma, Intraductal, Noninfiltrating ,Receptors, Estrogen ,Oncology ,Cancer research ,Female ,Precancerous Conditions ,Estrogen receptor alpha ,Polymorphism, Restriction Fragment Length - Abstract
An estrogen receptor (ER) alpha 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 hormone-binding domains of the ER alpha, shows increased sensitivity to estrogen compared with wild-type ER alpha.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.No A908G mutation was found in the ER alpha gene in these breast lesions.This mutation might be absent or occur in so few cells as to be undetectable by PCR-RFLP or direct sequencing.
- Published
- 2003