{
  "abstract": "Pathogenic variants in the tumor suppressor gene NF1 cause neurofibromatosis type 1 (NF1), one of the most common hereditary cancer predisposition syndromes. Pathogenic NF1 variants have been associated with an increased risk of several cancers; however, the relationship between NF1 variation and colon cancer remains underreported. We report a 41-year-old woman with a mosaic monoallelic germline pathogenic NF1 variant, NM_000267.3:c.1756_1759del (p.Thr586Valfs*18), previously detected on germline multigene panel testing in saliva at a variant allele frequency of approximately 35%. She later presented with fatigue, dyspnea on exertion, and iron-deficiency anemia. Computed tomography, colonoscopy, biopsy, mismatch repair immunohistochemistry, surgical pathology, and tumor next-generation sequencing led to the diagnosis of right-sided colon adenocarcinoma that was mismatch repair deficient (dMMR) and microsatellite instability-high (MSI-H). She underwent right hemicolectomy, recovered postoperatively, and entered standard surveillance; at the time of manuscript development, she was also receiving systemic therapy. This case highlights the co-occurrence of an NF1 variant and dMMR colorectal cancer and underscores the need for further studies to determine whether this represents a coincidental finding or a biologically meaningful association.",
  "abstract_shown": true,
  "affiliations": [
    "CLS Health Comprehensive Care Clinic-Clear Lake, Webster, TX 77598, USA.",
    "Department of Clinical Genomics, Mayo Clinic, Phoenix, AZ 85054, USA.",
    "Department of Health Sciences Research, Mayo Clinic Arizona, Scottsdale, AZ 85259, USA.",
    "Department of Neurology, Mayo Clinic, Phoenix, AZ 85054, USA.",
    "Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.",
    "Division of Medical Oncology, Mayo Clinic Cancer Center, Mayo Clinic, Phoenix, AZ 85054, USA."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Feras Alsabagh"
    },
    {
      "affs": [
        1
      ],
      "name": "Karam M Chaaban"
    },
    {
      "affs": [
        2
      ],
      "name": "Marlene Girardo"
    },
    {
      "affs": [
        3
      ],
      "name": "Ehab Harahsheh"
    },
    {
      "affs": [
        1
      ],
      "name": "Misha B Asif"
    },
    {
      "affs": [
        4
      ],
      "name": "Dusica Babovic-Vuksanovic"
    },
    {
      "affs": [
        5
      ],
      "name": "Mohamad Bassam Sonbol"
    },
    {
      "affs": [
        1
      ],
      "name": "Mayowa A Osundiji",
      "orcid": "0000-0001-6658-3964"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ek0m1rczrax22.bib",
  "cited_by": 0,
  "doi": "10.37349/en.2026.1006148",
  "fulltext_url": "https://europepmc.org/articles/PMC13647451",
  "id": "ek0m1rczrax22",
  "issns": [
    "2834-5347"
  ],
  "landing_url": "https://europepmc.org/article/MED/42852273",
  "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": [
    [
      "openalex",
      "2734|Genetic factors in colorectal cancer"
    ]
  ],
  "openalex": "W7207564570",
  "pdf_url": "https://europepmc.org/articles/PMC13647451?pdf=render",
  "pmcid": "PMC13647451",
  "pmid": "42852273",
  "published": "2026-09-03",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/ek0m1rczrax22.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:10Z",
      "native_id": "MED:42852273",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42852273"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2734|Genetic factors in colorectal cancer",
      "subfield": "general"
    }
  ],
  "title": "Colon cancer in a patient with a mosaic monoallelic germline pathogenic NF1 gene variant.",
  "title_text": "Colon cancer in a patient with a mosaic monoallelic germline pathogenic NF1 gene variant.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:10Z",
  "url": "https://research.draconitic.com/paper/ek0m1rczrax22",
  "venue": "Exploration of neuroscience",
  "versions": []
}