Nature Communications (Aug 2017)
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
- Kara N. Maxwell,
- Bradley Wubbenhorst,
- Brandon M. Wenz,
- Daniel De Sloover,
- John Pluta,
- Lyndsey Emery,
- Amanda Barrett,
- Adam A. Kraya,
- Ioannis N. Anastopoulos,
- Shun Yu,
- Yuchao Jiang,
- Hao Chen,
- Nancy R. Zhang,
- Nicole Hackman,
- Kurt D’Andrea,
- Robert Daber,
- Jennifer J. D. Morrissette,
- Nandita Mitra,
- Michael Feldman,
- Susan M. Domchek,
- Katherine L. Nathanson
Affiliations
- Kara N. Maxwell
- Division of Hematology-Oncology, 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
- Brandon M. Wenz
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Daniel De Sloover
- 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
- Lyndsey Emery
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Amanda Barrett
- Department of Pathology and Laboratory 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
- Ioannis N. Anastopoulos
- Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Shun Yu
- Department of Medicine, Perelman School of Medicine at the University of Pennsylvania
- Yuchao Jiang
- Department of Statistics, The Wharton School of University of Pennsylvania
- Hao Chen
- Department of Statistics, University of California-Davis
- Nancy R. Zhang
- Department of Statistics, The Wharton School of University of Pennsylvania
- Nicole Hackman
- 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
- Robert Daber
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Jennifer J. D. Morrissette
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Nandita Mitra
- Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine at the University of Pennsylvania
- Michael Feldman
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
- Susan M. Domchek
- Division of Hematology-Oncology, Department of Medicine, 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/s41467-017-00388-9
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
Abstract
Most tumours associated with germline BRCA1/BRCA2 loss of function mutations respond to DNA damaging agents, however, some do not. Herein, the authors identify that a subset of breast/ovarian tumors retain a normal allele, which is associated with decreased overall survival after DNA damage-inducing platinum chemotherapy.
