A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

por Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas v. O., Gerdes, Anne-Marie
Publicado en Hered Cancer Clin Pract (2020)

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

por Djursby, Malene, Madsen, Majbritt B., Frederiksen, Jane H., Berchtold, Lukas A., Therkildsen, Christina, Willemoe, Gro L., Hasselby, Jane P., Wikman, Friedrik, Okkels, Henrik, Skytte, Anne-Bine, Nilbert, Mef, Wadt, Karin, Gerdes, Anne-Marie, van Overeem Hansen, Thomas
Publicado en Front Genet (2020)

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

por Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, Dieter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S, LaDuca, Holly, Ramus, Susan J, Menon, Usha, Rosenthal, Adam N, Jacobs, Ian, Gayther, Simon A, Dicks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M, Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V O, Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D, Traficante, Nadia, Diez, Orland, Balmaña, Judith, Gruber, Stephen B, Chenevix-Trench, Georgia, Investigators, kConFab, Jensen, Allan, Kjær, Susanne K, Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J, Robson, Mark, Gronwald, Jacek, Domchek, Susan M, Culver, Julie O, de la Hoya, Miguel, Easton, Douglas F, Foulkes, William D, Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K, Pharoah, Paul D P, Antoniou, Antonis C
Publicado en J Natl Cancer Inst (2020)