RGD Reference Report - Estrogen receptor alpha (ESR1) mutant A908G is not a common feature in benign and malignant proliferations of the breast. - Rat Genome Database

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Estrogen receptor alpha (ESR1) mutant A908G is not a common feature in benign and malignant proliferations of the breast.

Authors: Tebbit, CL  Bentley, RC  Olson JA, JR  Marks, JR 
Citation: Tebbit CL, etal., Genes Chromosomes Cancer. 2004 May;40(1):51-4.
RGD ID: 8553053
Pubmed: PMID:15034868   (View Abstract at PubMed)
DOI: DOI:10.1002/gcc.20017   (Journal Full-text)

Alterations in estrogen responsive pathways are thought to contribute to benign and malignant breast disease. It has been reported previously that more than a third of typical epithelial hyperplasia lesions harbor the missense mutation A908G in the estrogen receptor alpha (ESR1) gene. This substitution of an arginine for a lysine at codon 303 was reported to confer mitogenic hypersensitivity to estrogen. To explore this finding further, we analyzed ESR1 for this mutation in a series of breast tissues ranging from typical hyperplasia to invasive cancer. In contrast to previous studies, no evidence for this mutation was found in 36 invasive cancers, 11 in situ carcinomas, 14 epithelial hyperplasias with atypia, 11 epithelial hyperplasias without atypia, and 11 breast cancer cell lines. These results indicate that ESR1 mutant A908G does not occur with significant frequency in either benign or malignant proliferations of breast epithelia.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1Humanbreast cancer no_associationIAGP DNA:SNP: :908A>G (p.K303R) (human)RGD 
Esr1Ratbreast cancer no_associationISOESR1 (Homo sapiens)DNA:SNP: :908A>G (p.K303R) (human)RGD 
Esr1Mousebreast cancer no_associationISOESR1 (Homo sapiens)DNA:SNP: :908A>G (p.K303R) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Esr1  (estrogen receptor 1)

Genes (Mus musculus)
Esr1  (estrogen receptor 1 (alpha))

Genes (Homo sapiens)
ESR1  (estrogen receptor 1)


Additional Information