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Table 4 Genes involved in human radiosensitivity identified from syndromes

From: Genetics and genomics of radiotherapy toxicity: towards prediction

Gene Characteristics References
ATM Mutated in individuals with AT; chromosomal instability, immunodeficiency, cancer predisposition, extreme clinical and cellular radiosensitivity; central component of signaling responses to DNA damage [46, 80]
MRE11 Mutated in individuals with AT-like disorder; immunodeficiency, cellular radiosensitivity; part of MRN complex involved in DNA damage detection and initiation of response [81]
LIG4 Mutated in individuals with LIG4-syndrome; chromosomal instability; immunodeficiency, clinical and cellular radiosensitivity; part of NHEJ pathway [82]
NBN Mutated in individuals with Nijmegen breakage syndrome; chromosomal instability; immunodeficiency; clinical and cellular radiosensitivity; cancer predisposition; part of MRN complex involved in DNA damage detection and initiation of response [83]
RAD50 Mutated in individual with Nijmegen breakage syndrome-like disorder; chromosomal instability; no immunodeficiency, cellular radiosensitivity; part of MRN complex [84]
RNF168 Mutated in individuals with RIDDLE syndrome; cellular radiosensitivity; immunodeficiency; recruitment of 53BP1 to sites of DSBs [85]
DCLRE1C Encodes artemis; mutated in individuals with radiosensitive severe combined immunodeficiency (RS-SCID); cellular radiosensitivity; involved in NHEJ [82]
PRKDC Encodes DNA-PKcs; DNA-PK-RS-SCID syndrome; immunodefiency; cellular radiosensitivity; involved in NHEJ [43]
SMCL1A and SMC3 Mutated in individuals with Cornelia de Lange syndrome; chromosomal instability; cellular radiosensitivity during G2 phase; sister chromatid cohesion [86]
  1. AT, ataxia telangiectasia; NHEJ, non-homologous end joining.