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 and Katherine L. Nathanson ()
Additional contact information
Kara N. Maxwell: Perelman School of Medicine at the University of Pennsylvania
Bradley Wubbenhorst: Perelman School of Medicine at the University of Pennsylvania
Brandon M. Wenz: Perelman School of Medicine at the University of Pennsylvania
Daniel De Sloover: Perelman School of Medicine at the University of Pennsylvania
John Pluta: Perelman School of Medicine at the University of Pennsylvania
Lyndsey Emery: Perelman School of Medicine at the University of Pennsylvania
Amanda Barrett: Perelman School of Medicine at the University of Pennsylvania
Adam A. Kraya: Perelman School of Medicine at the University of Pennsylvania
Ioannis N. Anastopoulos: Perelman School of Medicine at the University of Pennsylvania
Shun Yu: Perelman School of Medicine at the University of Pennsylvania
Yuchao Jiang: The Wharton School of University of Pennsylvania
Hao Chen: University of California-Davis
Nancy R. Zhang: The Wharton School of University of Pennsylvania
Nicole Hackman: Perelman School of Medicine at the University of Pennsylvania
Kurt D’Andrea: Perelman School of Medicine at the University of Pennsylvania
Robert Daber: Perelman School of Medicine at the University of Pennsylvania
Jennifer J. D. Morrissette: Perelman School of Medicine at the University of Pennsylvania
Nandita Mitra: Perelman School of Medicine at the University of Pennsylvania
Michael Feldman: Perelman School of Medicine at the University of Pennsylvania
Susan M. Domchek: Perelman School of Medicine at the University of Pennsylvania
Katherine L. Nathanson: Perelman School of Medicine at the University of Pennsylvania

Nature Communications, 2017, vol. 8, issue 1, 1-11

Abstract: Abstract Complete loss of BRCA1 or BRCA2 function is associated with sensitivity to DNA damaging agents. However, not all BRCA1 and BRCA2 germline mutation-associated tumors respond. Herein we report analyses of 160 BRCA1 and BRCA2 germline mutation-associated breast and ovarian tumors. Retention of the normal BRCA1 or BRCA2 allele (absence of locus-specific loss of heterozygosity (LOH)) is observed in 7% of BRCA1 ovarian, 16% of BRCA2 ovarian, 10% of BRCA1 breast, and 46% of BRCA2 breast tumors. These tumors have equivalent homologous recombination deficiency scores to sporadic tumors, significantly lower than scores in tumors with locus-specific LOH (ovarian, P = 0.0004; breast P

Date: 2017
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DOI: 10.1038/s41467-017-00388-9

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