Article
Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Cell death & disease - 15 Jun 2017
Meyer Stefan, Stevens Adam, Paredes Roberto, Schneider Marion, Walker Michael J, Williamson Andrew J K, Gonzalez-Sanchez Maria-Belen, Smetsers Stephanie, Dalal Vineet, Teng Hsiang Ying, White Daniel J, Taylor Sam, Muter Joanne, Pierce Andrew, de Leonibus Chiara, Rockx Davy A P, Rooimans Martin A, Spooncer Elaine, Stauffer Stacey, Biswas Kajal, Godthelp Barbara, Dorsman Josephine, Clayton Peter E, Sharan Shyam K, Whetton Anthony D
Abstract excerpt
BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition syndrome with cellular cross-linker hypersensitivity. Cancers associated with BRCA2 mutations can acquire...
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