{
  "abstract": "Background\n\nChildren with constitutional mismatch repair deficiency (CMMRD) require early and intensive cancer surveillance. Due to phenotypic overlap between CMMRD and neurofibromatosis type 1 (NF1), some children with CMMRD receive an incorrect diagnosis of NF1 and are inappropriately managed for their cancer risk. This study evaluated the effectiveness of a clinical checklist in identifying individuals for whom CMMRD evaluation is recommended.Procedure\n\nProviders in a neurofibromatosis clinic implemented published CMMRD evaluation checklists into their clinical notes. Phase 1 of the study consisted of retrospective chart review prior to incorporation of the checklist. Phase 2 consisted of prospective chart review after checklist implementation.Results\n\nPhase 1 included 81 patients; Phase 2 included 60 patients. In Phase 2, ambiguous (\"Unknown\") checklist responses were reduced, and patients were more likely to meet criteria for CMMRD evaluation. Individuals in Phase 2 were more likely to be referred for genetic evaluation compared to Phase 1. There was no correlation between patients meeting criteria for CMMRD evaluation and being referred to genetics in either cohort.Conclusions\n\nThese results suggest a clinical CMMRD checklist is a useful tool for identifying individuals for whom CMMRD evaluation is recommended. Patients with a nondiagnostic NF1 workup who meet CMMRD evaluation criteria require further follow-up to aid in appropriate diagnosis and management.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.",
    "Indiana University Health Physicians, Indianapolis, IN, USA.",
    "Division of Pediatric Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.",
    "Division of Pediatric Hematology/Oncology/Stem Cell Transplant, Indiana University School of Medicine, Indianapolis, IN, USA.",
    "Indiana University Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, IN, USA.",
    "Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN, USA.",
    "Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. lstout5@IUHealth.org.",
    "Indiana University Health Physicians, Indianapolis, IN, USA. lstout5@IUHealth.org.",
    "IU Health Simon Cancer Center, 1030 W. Michigan St, Ste 3307, Indianapolis, IN, 46202, USA. lstout5@IUHealth.org."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Bridget McDonald"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Jennifer Ivanovich"
    },
    {
      "affs": [
        0
      ],
      "name": "Leah Wetherill"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Laurence Walsh"
    },
    {
      "affs": [
        1,
        3
      ],
      "name": "Jayne Vonbergen"
    },
    {
      "affs": [
        1,
        3
      ],
      "name": "Lisa Langsford"
    },
    {
      "affs": [
        0,
        1,
        3,
        4,
        5
      ],
      "name": "Steven D Rhodes"
    },
    {
      "affs": [
        6,
        7,
        8
      ],
      "name": "Leigh Anne Stout"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/8sn1dmq98mbyq.bib",
  "cited_by": 0,
  "doi": "10.1007/s12687-026-00967-8",
  "fulltext_url": "https://europepmc.org/articles/PMC13719907",
  "id": "8sn1dmq98mbyq",
  "issns": [
    "1868-310X",
    "1868-6001"
  ],
  "landing_url": "https://europepmc.org/article/MED/42957923",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research"
    ],
    [
      "openalex",
      "2728|Neurofibromatosis and Schwannoma Cases"
    ]
  ],
  "openalex": "W7224530078",
  "pdf_url": "https://europepmc.org/articles/PMC13719907?pdf=render",
  "pmcid": "PMC13719907",
  "pmid": "42957923",
  "published": "2026-10-30",
  "publisher": "Springer",
  "ris": "https://research.draconitic.com/paper/8sn1dmq98mbyq.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:21Z",
      "native_id": "MED:42957923",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42957923"
    },
    {
      "first_seen": "2026-11-02T12:23:47Z",
      "native_id": "PMC13719907",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s12687-026-00967-8"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2728|Neurofibromatosis and Schwannoma Cases",
      "subfield": "neurology"
    }
  ],
  "title": "Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic.",
  "title_text": "Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:20:53Z",
  "url": "https://research.draconitic.com/paper/8sn1dmq98mbyq",
  "venue": "Journal of community genetics",
  "versions": []
}