Pathology

 germline mutations in the Nijmegen breakage syndrome (NBS)
 increased cancer risk of heterozygotes with NBS1 germline mutations (#15185344#)

See also

 FANC/BRCA1/BRCA2/ATM/NBS1 signaling pathway

References

 Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. PMID: #15279770#