Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Honglin SongEd M DicksJonathan TyrerMaria IntermaggioGeorgia Chenevix-TrenchDavid D BowtellNadia TraficanteAocs GroupJames BrentonTeodora GoranovaKaren HoskingAnna PiskorzElke van OudenhoveJen DohertyHolly R HarrisMary Anne RossingMatthias DuerstThilo DorkNatalia V BogdanovaFrancesmary ModugnoKirsten MoysichKunle OdunsiRoberta NessBeth Y KarlanJenny LesterAllan JensenSusanne Krüger KjaerEstrid HøgdallIan G CampbellConxi LázaroMiguel Angel PujaraJulie CunninghamRobert VierkantStacey J WinhamMichelle HildebrandtChad D HuffDonghui LiXifeng WuYao YuJennifer B PermuthDouglas A LevineJoellen M SchildkrautMarjorie J RigganAndrew BerchuckPenelope M WebbOpal Study GroupCezary CybulskiJacek GronwaldAnna JakubowskaJan LubinskiJennifer AlsopPatricia HarringtonIsaac ChanUsha MenonCeleste L PearceAnna H WuAnna de FazioCatherine J KennedyEllen GoodeSusan RamusSimon GaytherPaul David Peter PharoahPublished in: Journal of medical genetics (2020)
We have found strong evidence that carriers of PALB2 deleterious mutations are at increased risk of high-grade serous ovarian cancer. Whether the magnitude of risk is sufficiently high to warrant the inclusion of PALB2 in cancer gene panels for ovarian cancer risk testing is unclear; much larger sample sizes will be needed to provide sufficiently precise estimates for clinical counselling.