Description
ESR1 has been a focus in breast cancer for quite some time, but is also clinically relevant in endometrial, ovarian and other cancer types. The identification of ER-positive breast cancers that are resistant to hormone therapy have inspired clinical sequencing efforts to shed light on the mechanisms of this resistance. A number of mutations in the ligand binding domain of ESR1 have been implicated in hormone resistance and anti-estrogen therapies. These observations have spurred efforts to develop therapeutics that stimulate ESR1 protein degradation (e.g. Fulvestrant), rather than acting as a small molecule antagonist. These agents are currently in clinical trials and have seen some success.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (8)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 47 | D538G ASP538GLY | NC_000006.11:g.152419926A>G,ENST00000206249.3:c.1613A>G,NM_000125.3:c.1613A>G,NP_000116.2:p.Asp538Gly | missense_variant |
| 46 | L536Q LEU536GLN | NC_000006.11:g.152419920_152419921delinsAG,ENST00000440973.1:c.1607_1608delinsAG | missense_variant |
| 3910 | Mutation | ||
| 607 | Overexpression | ||
| 692 | S463P SER463PRO,RS1057519714 | NC_000006.11:g.152415537T>C,ENST00000440973.1:c.1387T>C,NM_000125.3:c.1387T>C,NP_000116.2:p.Ser463Pro | missense_variant |
| 48 | Y537C GLY537CYS | ENST00000206249.3:c.1610A>G,NC_000006.11:g.152419923A>G,NM_000125.3:c.1610A>G,NP_000116.2:p.Tyr537Cys | missense_variant |
| 49 | Y537N GLY537ASN | NC_000006.11:g.152419922T>A,ENST00000206249.3:c.1609T>A,NM_000125.3:c.1609T>A,NP_000116.2:p.Tyr537Asn | missense_variant |
| 50 | Y537S GLY537SER | NC_000006.11:g.152419923A>C,ENST00000206249.3:c.1610A>C,NM_000125.3:c.1610A>C,NP_000116.2:p.Tyr537Ser | missense_variant |