Table 4 Genes involved in human radiosensitivity identified from syndromes

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]

Mutated in individuals with AT-like disorder; immunodeficiency, cellular radiosensitivity; part of MRN complex involved in DNA damage detection and initiation of response

[81]

Mutated in individuals with LIG4-syndrome; chromosomal instability; immunodeficiency, clinical and cellular radiosensitivity; part of NHEJ pathway

[82]

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]

Mutated in individual with Nijmegen breakage syndrome-like disorder; chromosomal instability; no immunodeficiency, cellular radiosensitivity; part of MRN complex

[84]

Mutated in individuals with RIDDLE syndrome; cellular radiosensitivity; immunodeficiency; recruitment of 53BP1 to sites of DSBs

[85]

Encodes artemis; mutated in individuals with radiosensitive severe combined immunodeficiency (RS-SCID); cellular radiosensitivity; involved in NHEJ

[82]

Encodes DNA-PKcs; DNA-PK-RS-SCID syndrome; immunodefiency; cellular radiosensitivity; involved in NHEJ

[43]

Mutated in individuals with Cornelia de Lange syndrome; chromosomal instability; cellular radiosensitivity during G2 phase; sister chromatid cohesion

[86]