Article
Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
Proceedings of the National Academy of Sciences of the United States of America - 20 Sept 2022
Prakash Rohit, Rawal Yashpal, Sullivan Meghan R, Grundy McKenzie K, Bret Hélène, Mihalevic Michael J, Rein Hayley L, Baird Jared M, Darrah Kristie, Zhang Fang, Wang Raymond, Traina Tiffany A, Radke Marc R, Kaufmann Scott H, Swisher Elizabeth M, Guérois Raphaël, Modesti Mauro, Sung Patrick, Jasin Maria, Bernstein Kara A
Abstract excerpt
Mutations in homologous recombination (HR) genes, including BRCA1, BRCA2, and the RAD51 paralog RAD51C, predispose to tumorigenesis and sensitize cancers to DNA-damaging agents and poly(ADP ribose) polymerase inhibitors. However, ∼800 missense variants of unknown significance have been identified for RAD51C alone, impairing cancer risk assessment and therapeutic strategies. Here, we interrogated >50 RAD51C...
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