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 | |
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] |