Article
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature communications - 7 Nov 2022
Shah Jennifer B, Pueschl Dana, Wubbenhorst Bradley, Fan Mengyao, Pluta John, D'Andrea Kurt, Hubert Anna P, Shilan Jake S, Zhou Wenting, Kraya Adam A, Llop Guevara Alba, Ruan Catherine, Serra Violeta, Balmaña Judith, Feldman Michael, Morin Pat J, Nayak Anupma, Maxwell Kara N, Domchek Susan M, Nathanson Katherine L
Abstract excerpt
Recurrence is a major cause of death among BRCA1/2 mutation carriers with breast (BrCa) and ovarian cancers (OvCa). Herein we perform multi-omic sequencing on 67 paired primary and recurrent BrCa and OvCa from 27 BRCA1/2 mutation carriers to identify potential recurrence-specific drivers. PARP1 amplifications are identified in recurrences (False Discovery Rate q = 0.05), and PARP1 is significantly overexpressed...
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