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

Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting DNA damage repair, increase the risk of breast and ovarian cancer. A large number of RAD51C missense variants of uncertain significance (VUS) have been identified, but the effects of the majority of these var...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2023
Materias:
Translational Cancer Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390864/
https://www.ncbi.nlm.nih.gov/pubmed/37253112
http://dx.doi.org/10.1158/0008-5472.CAN-22-2319

Ejemplares similares

Ejemplares similares