Nature Communications (Nov 2022)
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
- 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
Affiliations
- Jennifer B. Shah
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Dana Pueschl
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Bradley Wubbenhorst
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Mengyao Fan
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- John Pluta
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Kurt D’Andrea
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Anna P. Hubert
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Jake S. Shilan
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Wenting Zhou
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Adam A. Kraya
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Alba Llop Guevara
- Experimental Therapeutics Group, Vall d’Hebron Institut d’Oncologia
- Catherine Ruan
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Violeta Serra
- Experimental Therapeutics Group, Vall d’Hebron Institut d’Oncologia
- Judith Balmaña
- Hereditary Cancer Genetics Group, Vall d’Hebron Institut d’Oncologia
- Michael Feldman
- Division of Surgical Pathology, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Pat J. Morin
- Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
- Anupma Nayak
- Division of Surgical Pathology, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Kara N. Maxwell
- Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
- Susan M. Domchek
- Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
- Katherine L. Nathanson
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- DOI
- https://doi.org/10.1038/s41467-022-34523-y
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 19
Abstract
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.
