NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.
Sami BelhadjAliya KhurramChaitanya BandlamudiGuillermo Palou-MárquezVignesh RavichandranZoe SteinsnyderTemima WildmanAmanda CatchingsYelena M KemelSemanti MukherjeeBenjamin FeskoKanika S AroraMiika MehineSita DandikerAalin IzharJohn H J PetriniSusan M DomchekKatherine L NathansonJamie BrowerFergus J CouchZsofia K StadlerMark E RobsonMichael F WalshJoseph VijaiMichael F BergerFran SupekRachid KaramSabine TopkaKenneth OffitPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2022)
Burden analyses, biallelic inactivation, and functional evidence support the role of NBN as contributing to a broad cancer spectrum. Further studies in large pan-cancer series and the assessment of epistatic and environmental interactions are warranted to further define these associations.