Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations

Stable Identifier
R-HSA-9670613
Type
Pathway
Species
Homo sapiens
Compartment
nucleoplasm
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Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
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A small portion of tumors that are positive for alternative lengthening of telomeres (ALT) markers and negative for mutations in the ATRX gene harbor loss-of-function mutations in the DAXX gene, which encodes the ATRX binding partner DAXX. For review, please refer to Gocha et al. 2013, and Pickett and Reddel 2015.

Literature References
PubMed ID Title Journal Year
23219603 Alternative mechanisms of telomere lengthening: permissive mutations, DNA repair proteins and tumorigenic progression

Groden, J, Gocha, AR, Harris, J

Mutat. Res. 2013
26581522 Molecular mechanisms of activity and derepression of alternative lengthening of telomeres

Reddel, RR, Pickett, HA

Nat. Struct. Mol. Biol. 2015
Participants
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Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M  (2020-04-30)
Reviewed
Reddel, RR  (2020-11-13)
Meeker, AK  (2020-11-05)
Created
Orlic-Milacic, M  (2019-12-11)
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