{
  "abstract": "BRIP1 (OMIM: 605882), associated with hereditary ovarian cancer, has recently been described in association with central nervous system (CNS) tumours. Institutional germline database review identified 43 families with BRIP1 pathogenic germline variants (PGVs); 7 families (16.3%) reported 8 CNS tumours. Somatic database review identified 1143 individuals with CNS tumours who underwent somatic sequencing, of whom 7 had BRIP1 pathogenic variants (PVs) (0.6%); 1 of 2 germline-tested individuals had a BRIP1 PGV. Though BRIP1 PVs are rare in CNS tumours, a substantial proportion of BRIP1 carriers have a positive family history. Obtaining and documenting the clinical and pathological characteristics of reported CNS tumours in BRIP1 individuals and families is key to exploring a possible association.",
  "authors": [
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Jacqueline Cappadocia"
    },
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Corporal Michael J. Crescenz, Veterans Affairs Medical Center, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Kara N Maxwell"
    },
    {
      "affiliations": [
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Katherine L Nathanson"
    },
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Stephen Bagley"
    },
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Jacquelyn Powers"
    },
    {
      "affiliations": [
        "Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Eitan Halper-Stromberg"
    },
    {
      "affiliations": [
        "Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Jacquelyn J Roth"
    },
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Susan Domchek"
    },
    {
      "affiliations": [
        "Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Basser Center for BRCA, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA",
        "Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA"
      ],
      "name": "Payal D. Shah"
    }
  ],
  "title": "Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort",
  "uid": "e28b232a-7ca5-573a-a5fd-e11c9ecf9c41"
}