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BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers

Author

Listed:
  • 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
    Perelman School of Medicine at the University of Pennsylvania)

  • Katherine L. Nathanson

    (Perelman School of Medicine at the University of Pennsylvania
    Perelman School of Medicine at the University of Pennsylvania)

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

Suggested Citation

  • 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 , 2017. "BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers," Nature Communications, Nature, vol. 8(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-00388-9
    DOI: 10.1038/s41467-017-00388-9
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