Mutation prevalence tables for hereditary cancer derived from multigene panel testing

Por Hart, Steven N., Polley, Eric C., Yussuf, Amal, Yadav, Siddhartha, Goldgar, David E., Hu, Chunling, LaDuca, Holly, Smith, Laura P., Fujimoto, June, Li, Shuwei, Couch, Fergus J., Dolinsky, Jill S.
Publicado no Hum Mutat (2020)

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Por Fortuno, Cristina, Mester, Jessica, Pesaran, Tina, Weitzel, Jeffrey N., Dolinsky, Jill, Yussuf, Amal, McGoldrick, Kelly, Garber, Judy E., Savage, Sharon A., Khincha, Payal P., Evans, D. Gareth, Achatz, Maria Isabel, Nichols, Kim E., Maxwell, Kara, Schiffman, Joshua D., Sandoval, Renata, James, Paul A., Spurdle, Amanda B.
Publicado no Hum Mutat (2020)

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk pa...

Por LaDuca, Holly, Polley, Eric C., Yussuf, Amal, Hoang, Lily, Gutierrez, Stephanie, Hart, Steven N., Yadav, Siddhartha, Hu, Chunling, Na, Jie, Goldgar, David E., Fulk, Kelly, Smith, Laura Panos, Horton, Carolyn, Profato, Jessica, Pesaran, Tina, Gau, Chia-Ling, Pronold, Melissa, Davis, Brigette Tippin, Chao, Elizabeth C., Couch, Fergus J., Dolinsky, Jill S.
Publicado no Genet Med (2019)

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

Por Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth
Publicado no JAMA Netw Open (2019)

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

Por 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
Publicado no J Clin Oncol (2020)