Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
oleh: Jennifer B. Shah, Dana Pueschl, Bradley Wubbenhorst, Mengyao Fan, John Pluta, Kurt D’Andrea, Anna P. Hubert, Jake S. Shilan, Wenting Zhou, Adam A. Kraya, Alba Llop Guevara, Catherine Ruan, Violeta Serra, Judith Balmaña, Michael Feldman, Pat J. Morin, Anupma Nayak, Kara N. Maxwell, Susan M. Domchek, Katherine L. Nathanson
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2022-11-01 |
Deskripsi
Carriers of pathogenic BRCA1/2 variants have a higher risk of breast and ovarian cancers, which recur frequently. Here, the authors sequence primary and recurrent tumours of BRCA1/2 mutation carriers, finding PARP1 amplifications, differential BRCA2 isoform usage, and discordant loss of heterozygosity that are associated with recurrence.