Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

por Arvai, Kevin J., Roberts, Maegan E., Torene, Rebecca I., Susswein, Lisa R., Marshall, Megan L., Zhang, Zhancheng, Carter, Natalie J., Yackowski, Lauren, Rinella, Erica S., Klein, Rachel T., Hruska, Kathleen S., Retterer, Kyle
Publicado 2019

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

por Roberts, Maegan E, Jackson, Sarah A, Susswein, Lisa R, Zeinomar, Nur, Ma, Xinran, Marshall, Megan L, Stettner, Amy R, Milewski, Becky, Xu, Zhixiong, Solomon, Benjamin D, Terry, Mary Beth, Hruska, Kathleen S, Klein, Rachel T, Chung, Wendy K
Publicado 2018

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

por Hu, Chunling, Susswein, Lisa R., Roberts, Maegan E., Yang, Hana, Marshall, Megan L., Hiraki, Susan, Berkofsky-Fessler, Windy, Gupta, Sounak, Shen, Wei, Dunn, Carolyn A., Huang, Huaizhi, Na, Jie, Domchek, Susan M., Yadav, Siddhartha, Monteiro, Alvaro N.A., Polley, Eric C., Hart, Steven N., Hruska, Kathleen S., Couch, Fergus J.
Publicado 2022

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

por Susswein, Lisa R., Marshall, Megan L., Nusbaum, Rachel, Vogel Postula, Kristen J., Weissman, Scott M., Yackowski, Lauren, Vaccari, Erica M., Bissonnette, Jeffrey, Booker, Jessica K., Cremona, M. Laura, Gibellini, Federica, Murphy, Patricia D., Pineda-Alvarez, Daniel E., Pollevick, Guido D., Xu, Zhixiong, Richard, Gabi, Bale, Sherri, Klein, Rachel T., Hruska, Kathleen S., Chung, Wendy K.
Publicado 2016

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