title: Status of estrogen receptor 1 (ESR1) gene in mastopathy predicts subsequent development of breast cancer.
abstract: Mastopathy is a common disease of the breast likely associated with elevated estrogen levels and a putative risk factor for breast cancer. The role of estrogen receptor alpha (ESR1) in mastopathy has not been investigated previously. Here, we investigated the prevalence of ESR1 gene amplification in mastopathy and its prediction for breast cancer. Paraffin-embedded tissues from 58 women with invasive breast cancer were analyzed. For all women, tissues with mastopathy taken at least 1.5 years before first diagnosis of breast cancer were available. Tissue from 46 women with mastopathy without a diagnosis of breast carcinoma in the observed time frame (12-18 years) was used as control. Fluorescence in situ hybridization analysis revealed that ESR1 was amplified in nine of 58 (15.5 %) breast cancers. All ESR1-amplified breast cancers were strongly positive for estrogen receptor with ER immunohistochemistry. Interestingly, in women with ESR1 amplification in breast cancer, the amplification was detectable in mastopathic tissues prior to the first diagnosis of breast cancer but was absent in tissues from women with mastopathy who did not develop breast cancer. Our study suggests that ESR1 gene amplification is an early event in breast pathology and might be a helpful predictive marker to identify patients at high risk of developing breast cancer.
authors.affiliation: Department of Surgery, University Hospital Basel, Spitalstrasse 21, 4031, Basel, Switzerland, S.SOYSAL@gmx.de.
authors.forename: Savas D
authors.initials: SD
authors.lastname: Soysal
authors.forename: Incken B
authors.initials: IB
authors.lastname: Kilic
authors.forename: Christian R A
authors.initials: CR
authors.lastname: Regenbrecht
authors.forename: Sandra
authors.initials: S
authors.lastname: Schneider
authors.forename: Simone
authors.initials: S
authors.lastname: Muenst
authors.forename: Nerbil
authors.initials: N
authors.lastname: Kilic
authors.forename: Uwe
authors.initials: U
authors.lastname: Güth
authors.forename: Manfred
authors.initials: M
authors.lastname: Dietel
authors.forename: Luigi M
authors.initials: LM
authors.lastname: Terracciano
authors.forename: Ergin
authors.initials: E
authors.lastname: Kilic
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor; D001941:Breast Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology*; D015331:Cohort Studies; D047628:Estrogen Receptor alpha / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D005784:Gene Amplification; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D012372:ROC Curve
chemical_list: D014408:Biomarkers, Tumor; D047628:Estrogen Receptor alpha