Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data

por Hernandez, Felicia, Conner, Blair R., Richardson, Marcy E., LaDuca, Holly, Chao, Elizabeth, Pesaran, Tina, Karam, Rachid
Publicado 2022

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions

por Karabachev, Alexander D., Martini, Dylan J., Hermel, David J., Solcz, Dana, Richardson, Marcy E., Pesaran, Tina, Sarkar, Indra Neil, Greenblatt, Marc S.
Publicado 2020

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

por Horton, Carolyn, LaDuca, Holly, Deckman, Ashley, Durda, Kate, Jackson, Michelle, Richardson, Marcy E, Tian, Yuan, Yussuf, Amal, Jasperson, Kory, Else, Tobias
Publicado 2022

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

por Horton, Carolyn, Hoang, Lily, Zimmermann, Heather, Young, Colin, Grzybowski, Jessica, Durda, Kate, Vuong, Huy, Burks, David, Cass, Ashley, LaDuca, Holly, Richardson, Marcy E., Harrison, Steven, Chao, Elizabeth C., Karam, Rachid
Publicado 2023

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

por Richardson, Marcy E., Chong, Hansook, Mu, Wenbo, Conner, Blair R., Hsuan, Vickie, Willett, Sara, Lam, Stephanie, Tsai, Pei, Pesaran, Tina, Chamberlin, Adam C., Park, Min-Sun, Gray, Phillip, Karam, Rachid, Elliott, Aaron
Publicado 2018

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

por Richardson, Marcy E., Chong, Hansook, Mu, Wenbo, Conner, Blair R., Hsuan, Vickie, Willett, Sara, Lam, Stephanie, Tsai, Pei, Pesaran, Tina, Chamberlin, Adam C., Park, Min-Sun, Gray, Phillip, Karam, Rachid, Elliott, Aaron
Publicado 2018

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care—Checking CHEK2

por Bychkovsky, Brittany L., Agaoglu, Nihat B., Horton, Carolyn, Zhou, Jing, Yussuf, Amal, Hemyari, Parichehr, Richardson, Marcy E., Young, Colin, LaDuca, Holly, McGuinness, Deborah L., Scheib, Rochelle, Garber, Judy E., Rana, Huma Q.
Publicado 2022

Targeted DNA Demethylation and Endogenous Gene Activation Using Programmable TALE-TET1 Fusions

por Maeder, Morgan L, Angstman, James F, Richardson, Marcy E, Linder, Samantha J, Cascio, Vincent M, Tsai, Shengdar Q, Ho, Quan H, Sander, Jeffry D, Reyon, Deepak, Bernstein, Bradley E, Costello, Joseph F, Wilkinson, Miles F, Joung, J Keith
Publicado 2013

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

por Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.
Publicado 2021

BRCA1 frameshift variants leading to extended incorrect protein C termini

por Nepomuceno, Thales C., Foo, Tzeh Keong, Richardson, Marcy E., Ranola, John Michael O., Weyandt, Jamie, Varga, Matthew J., Alarcon, Amaya, Gutierrez, Diana, von Wachenfeldt, Anna, Eriksson, Daniel, Kim, Raymond, Armel, Susan, Iversen, Edwin, Couch, Fergus J., Borg, Åke, Xia, Bing, Carvalho, Marcelo A., Monteiro, Alvaro N.A.
Publicado 2023

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 2019

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

por Hu, Chunling, Nagaraj, Anil Belur, Shimelis, Hermela, Montalban, Gemma, Lee, Kun Y., Huang, Huaizhi, Lumby, Carolyn A., Na, Jie, Susswein, Lisa R., Roberts, Maegan E., Marshall, Megan L., Hiraki, Susan, LaDuca, Holly, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Neuhausen, Susan L., Haiman, Christopher A., Kraft, Peter, Lindstrom, Sara, Palmer, Julie R., Teras, Lauren R., Vachon, Celine M., Yao, Song, Ong, Irene, Nathanson, Katherine L., Weitzel, Jeffrey N., Boddicker, Nicholas, Gnanaolivu, Rohan, Polley, Eric C., Mer, Georges, Cui, Gaofeng, Karam, Rachid, Richardson, Marcy E., Domchek, Susan M., Yadav, Siddhartha, Hruska, Kathleen S., Dolinsky, Jill, Weroha, S. John, Hart, Steven N., Simard, Jacques, Masson, Jean Yves, Pang, Yuan-Ping, Couch, Fergus J.
Publicado 2023

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023