Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Denise G O'MahonySusan J RamusMelissa C SoutheyNicola S MeagherAndreas HadjisavvasEsther M JohnUte HamannEvgeny N ImyanitovIrene L AndrulisPriyanka SharmaMary B DalyChristopher R HakeJeffrey N WeitzelAnna JakubowskaAndrew K GodwinAdalgeir ArasonAnita BaneJacques SimardPenny SoucyMaria A CaligoPhuong L MaiKathleen B M ClaesManuel R TeixeiraWendy K ChungConxi LazaroPeter J HulickAmanda Ewart TolandInge Sokilde Pedersennull nullSusan L NeuhausenAna VegaMiguel de la HoyaHeli NevanlinnaMallika DhawanValentina ZampigaRita DanesiLiliana VarescoViviana GismondiValerio Gaetano VellonePaul A JamesRamunas JanaviciusLiene Nikitina-ZakeFinn Cilius NielsenThomas van Overeem HansenTanja PejovicAke BorgJohanna RantalaKenneth OffitMarco MontagnaKatherine L NathansonSusan M DomchekAna OsorioMaría José GarcíaBeth Y Karlannull nullAnna De FazioDavid Bowtellnull nullLesley McGuffogGoska LeslieMichael T ParsonsThilo DörkLisa-Marie SpeithElizabeth Santana Dos SantosAlexandre André B A da CostaPaolo RadicePaolo PeterlongoLaura PapiChristoph EngelEric HahnenRita K SchmutzlerBarbara WappenschmidtDouglas F EastonMarc TischkowitzChristian F SingerYen Yen TanAlice S WhittemoreWeiva SiehJames D BrentonDrakoulis YannoukakosFlorentia FostiraIrene KonstantopoulouJana SoukupovaMichal Vockanull nullGeorgia Chenevix-TrenchPaul David Peter PharoahAntonis C AntoniouDavid E GoldgarAmanda B SpurdleKyriaki Michailidounull nullnull nullPublished in: British journal of cancer (2023)
We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.