Estrogen resistance syndrome: genes and variants
Estrogen resistance syndrome is linked to 1 analyzed protein (ESR1). 2 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Estrogen resistance syndrome
ESR1: Estrogen receptor
Estrogen binding redirects its transcriptional activity toward programs controlling reproductive, skeletal, metabolic, and mammary physiology. Persistent ESR1 signaling drives most hormone-receptor-positive breast cancers, while acquired activating variants are an important mechanism of endocrine-therapy resistance.
2 disease-causing and 3 uncertain variants in ESR1 are linked to Estrogen resistance syndrome.
Known disease-causing variants in Estrogen resistance syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ESR1 R394H | 394 | NR LBD | Disease-causing |
| ESR1 Q375H | 375 | NR LBD | Disease-causing |
Diseases related to Estrogen resistance syndrome
- Osteoporosis, also linked to ESR1
- Prostate cancer, also linked to ESR1
- Postmenopausal osteoporosis, also linked to ESR1
Frequently asked questions
Which genes are linked to Estrogen resistance syndrome?
In CATVariant, Estrogen resistance syndrome is linked to 1 analyzed protein: ESR1 (Estrogen receptor).
How many genetic variants are linked to Estrogen resistance syndrome?
5 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Estrogen resistance syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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