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Gene Symbol ATRX
Synonyms JMS | MRX52 | RAD54 | RAD54L | XH2 | XNP | ZNF-HX
Gene Description ATRX, ATRX chromatin remodeler, is in the SWI/SNF family of chromatin remodeling proteins and plays a role in DNA repair and telomere length (PMID: 36894374). ATRX loss and mutations have been identified in a high percentage of tumor types including glioma (PMID: 23249563; PMID: 26936505, PMID: 31908895) and copy number loss has also been observed in pancreatic neuroendocrine tumors (PMID: 30081149) and ovarian ependymomas (PMID: 29944970).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
546 X Xq21.1 NM_000489 Tumor suppressor (PMID: 30606230)

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATRX R781* high grade glioma sensitive Adavosertib Preclinical - Patient cell culture Actionable In a preclinical study, Adavosertib (MK-1775) inhibited growth of patient-derived glioma cells harboring ATRX R781* in culture (PMID: 31551363). 31551363
ATRX loss high grade glioma predicted - sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, Talzenna (talazoparib) treatment inhibited viability of immortalized astrocytes with loss of ATRX in culture (PMID: 34118569). 34118569
ATRX loss high grade glioma predicted - sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited viability of immortalized astrocytes with loss of ATRX in culture (PMID: 34118569). 34118569
ATRX loss glioblastoma sensitive Topotecan Preclinical Actionable In a preclinical study, loss of ATRX sensitized glioblastoma cell lines to double-stranded DNA-damaging agents, including Adriamycin (doxorubicin), Topotecan, and Camptosar (irinotecan) in culture (PMID: 26936505). 26936505
ATRX loss glioblastoma sensitive Doxorubicin Preclinical Actionable In a preclinical study, loss of ATRX sensitized glioblastoma cell lines to double-stranded DNA-damaging agents, including Adriamycin (doxorubicin), Topotecan, and Camptosar (irinotecan) in culture (PMID: 26936505). 26936505
ATRX loss glioblastoma sensitive Irinotecan Preclinical Actionable In a preclinical study, loss of ATRX sensitized glioblastoma cell lines to double-stranded DNA-damaging agents, including Adriamycin (doxorubicin), Topotecan, and Camptosar (irinotecan) in culture (PMID: 26936505). 26936505
ATRX loss high grade glioma predicted - sensitive Ceralasertib + Olaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Ceralasertib (AZD6738) and Lynparza (olaparib) synergized to inhibit viability of immortalized astrocytes with loss of ATRX in culture (PMID: 34118569). 34118569
ATRX loss IDH1 mut malignant astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
ATRX loss IDH1 mut high grade glioma predicted - sensitive Gemcitabine + Radiotherapy Phase I Actionable In a Phase I trial, Gemzar (gemcitabine) plus radiation therapy resulted in median overall survival of 73.5 months in 7 high-grade glioma patients with IDH mutated, non-codeleted tumors with ATRX loss (PMID: 26853339). 26853339
ATRX loss IDH2 mut malignant astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
ATRX loss IDH1 R132H high grade glioma predicted - sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, Talzenna (talazoparib) treatment inhibited viability of immortalized astrocytes expressing IDH1 R132H with loss of ATRX in culture (PMID: 34118569). 34118569
ATRX loss IDH1 R132H high grade glioma predicted - sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited viability of immortalized astrocytes expressing IDH1 R132H with loss of ATRX in culture (PMID: 34118569). 34118569
ATRX inact mut Advanced Solid Tumor sensitive E7449 Preclinical Actionable In a preclinical study, E7449 inhibited proliferation of a ATRX-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). 26513298
ATRX inact mut ovarian cancer predicted - sensitive M1774 Case Reports/Case Series Actionable In a Phase I trial (DDRiver Solid Tumours 301), a patient with ovarian cancer harboring an inactivating mutation in ATRX experienced a partial response on treatment with M1774 (Ann Oncol (2022) 33 (suppl_7): S747-S748; NCT04170153). detail...
ATRX mutant high grade glioma not applicable N/A Guideline Diagnostic ATRX mutations aid in the diagnosis of gliomas (NCCN.org). detail...
ATRX fusion neuroblastoma predicted - sensitive UNC1999 Preclinical - Cell line xenograft Actionable In a preclinical study, treatment with UNC1999 resulted in reduced proliferation and increased apoptosis of neuroblastoma cell lines harboring in-frame ATRX fusions in culture, and decreased tumor growth in a neuroblastoma cell line xenograft model harboring an ATRX fusion (PMID: 31631027). 31631027
ATRX fusion neuroblastoma predicted - sensitive Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, treatment with Tazemetostat (EPZ-6438) resulted in reduced proliferation and increased apoptosis of neuroblastoma cell lines harboring in-frame ATRX fusions in culture (PMID: 31631027). 31631027
ATRX fusion neuroblastoma predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, treatment with GSK126 resulted in reduced proliferation and increased apoptosis of neuroblastoma cell lines harboring in-frame ATRX fusions in culture (PMID: 31631027). 31631027
ATRX del hepatocellular carcinoma sensitive Adavosertib Preclinical - Cell line xenograft Actionable In a preclinical study, Adavosertib (MK-1775) treatment resulted in cell cycle arrest, DNA damage, and apoptosis in hepatocellular carcinoma cell lines with ATRX gene knocked out via CRISPR-Cas9 in culture, and inhibited tumor growth in cell line xenograft models (PMID: 31551363). 31551363
ATRX S458* high grade glioma sensitive Adavosertib Preclinical - Patient cell culture Actionable In a preclinical study, Adavosertib (MK-1775) inhibited growth of patient-derived glioma cells harboring ATRX S458* in culture (PMID: 31551363). 31551363