Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Abstract

PURPOSE: pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS: PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS: for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION: PV carriers.

Authors Yang, Xin; Leslie, Goska; Doroszuk, Alicja; Schneider, Sandra; Allen, Jamie; Decker, Brennan; Dunning, Alison M; Redman, James; Scarth, James; Plaskocinska, Inga; Luccarini, Craig; Shah, Mitul; Pooley, Karen; Dorling, Leila; Lee, Andrew; Adank, Muriel A; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L; Ang, Peter; Barwell, Julian; Bernstein, Jonine L; Bobolis, Kristie; Borg, Åke; Blomqvist, Carl; Claes, Kathleen B M; Concannon, Patrick; Cuggia, Adeline; Culver, Julie O; Damiola, Francesca; de Pauw, Antoine; Diez, Orland; Dolinsky, Jill S; Domchek, Susan M; Engel, Christoph; Evans, D Gareth; Fostira, Florentia; Garber, Judy; Golmard, Lisa; Goode, Ellen L; Gruber, Stephen B; Hahnen, Eric; Hake, Christopher; Heikkinen, Tuomas; Hurley, Judith E; Janavicius, Ramunas; Kleibl, Zdenek; Kleiblova, Petra; Konstantopoulou, Irene; Kvist, Anders; Laduca, Holly; Lee, Ann S G; Lesueur, Fabienne; Maher, Eamonn R; Mannermaa, Arto; Manoukian, Siranoush; McFarland, Rachel; McKinnon, Wendy; Meindl, Alfons; Metcalfe, Kelly; Mohd Taib, Nur Aishah; Moilanen, Jukka; Nathanson, Katherine L; Neuhausen, Susan; Ng, Pei Sze; Nguyen-Dumont, Tu; Nielsen, Sarah M; Obermair, Florian; Offit, Kenneth; Olopade, Olufunmilayo I; Ottini, Laura; Penkert, Judith; Pylkäs, Katri; Radice, Paolo; Ramus, Susan J; Rudaitis, Vilius; Side, Lucy; Silva-Smith, Rachel; Silvestri, Valentina; Skytte, Anne-Bine; Slavin, Thomas; Soukupova, Jana; Tondini, Carlo; Trainer, Alison H; Unzeitig, Gary; Usha, Lydia; van Overeem Hansen, Thomas; Whitworth, James; Wood, Marie; Yip, Cheng Har; Yoon, Sook-Yee; Yussuf, Amal; Zogopoulos, George; Goldgar, David; Hopper, John L; Chenevix-Trench, Georgia; Pharoah, Paul; George, Sophia H L; Balmaña, Judith; Houdayer, Claude; James, Paul; El-Haffaf, Zaki; Ehrencrona, Hans; Janatova, Marketa; Peterlongo, Paolo; Nevanlinna, Heli; Schmutzler, Rita; Teo, Soo-Hwang; Robson, Mark; Pal, Tuya; Couch, Fergus; Weitzel, Jeffrey N; Elliott, Aaron; Southey, Melissa; Winqvist, Robert; Easton, Douglas F; Foulkes, William D; Antoniou, Antonis C; Tischkowitz, Marc
Journal Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pages JCO1901907
Volume 38
Date 1/12/2019
Grant ID R01 ES027121
Funding Body NIEHS NIH HHS
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1200/JCO.19.01907