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RAD50 (DNA repair protein RAD50) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Colorectal cancer and 2 more.
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Irinotecan and Checkpoint Kinase Inhibitor AZD7762. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.01, affected pathway 0.84, literature 0.94, genetic association 0.89, somatic mutation 0.78, animal model 0.62). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.
In plain words · RAD50 (DNA repair protein RAD50) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Colorectal cancer and 2 more.
RAD50 (DNA repair protein RAD50) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Colorectal cancer and 2 more.
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis.
No product in this corpus aims at RAD50 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RAD50: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining head and neck cancer (3 of 3 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Colorectal cancer, Prostate cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q92878; CIViC gene RAD50; IntOGen RAD50; Human Protein Atlas RAD50 tissue; Open Targets ENSG00000113522 associations
First described 1996. Earliest sequence paper UniProt cites for the protein: Dolganov G.M. et al, Mol. Cell. Biol, 1996, "Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair". Source.
Sources: HGNC HGNC:9816 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q92878 (protein name, function text, keywords and locations (REST API)); CIViC gene RAD50 (1 evidence items, 0 assertions, 1 variants; diseases: Ureter Small Cell Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000113522 (association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.55, prostate cancer 0.51, ovarian cancer 0.67, breast cancer 0.66 (GraphQL API, CC0)); IntOGen RAD50 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the complex, RAD50 is both required to bind DNA ends and hold them in close proximity and regulate the activity of MRE11. RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible MRE11 nuclease sites into a closed form. Location: Nucleus; Chromosome, telomere; Chromosome (UniProt). Locus 5q31.1 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Caudate, Cervix, Colon, Esophagus, Hippocampus, Kidney, Lymph node.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"RAD50" OR ABSTRACT:"RAD50" OR TITLE:"RAD50 double strand break repair protein" OR ABSTRACT:"RAD50 double strand break repair protein" OR TITLE:"DNA repair protein RAD50" OR ABSTRACT:"DNA repair protein RAD50" OR TITLE:"hRad50" OR ABSTRACT:"hRad50" OR TITLE:"RAD50-2" OR ABSTRACT:"RAD50-2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about RAD50, not a curated reading list.