{
  "abstract": "We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24‐year‐old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant allele frequency of 19% in blood, initially missed by panel sequencing. Case 2 concerns a 59‐year‐old female with multiple primary tumours and two identical TP53 variants detected in two different tissues which initially suggested somatic mosaicism but were consistent with a myelodysplastic syndrome-related clone secondary to homozygous germline ERCC6L2-associated bone marrow failure. These cases highlight the importance of accurately interpreting TP53 variants for correct clinical decision-making. Contextual factors such as age, phenotype, family history and tissue testing must guide diagnosis, treatment and surveillance.",
  "authors": [
    {
      "affiliations": [
        "Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Amalie Noergaard Andersson"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Anna Byrjalsen"
    },
    {
      "affiliations": [
        "Department of Oncology, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Ida Elisabeth Viller Tuxen"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Mette Klarskov Andersen"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark",
        "Department of Clinical Medicine, Faculty of Medicine, Copenhagen University, Copenhagen, Denmark"
      ],
      "name": "Thomas van Overeem Hansen"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark",
        "Department of Clinical Medicine, Faculty of Medicine, Copenhagen University, Copenhagen, Denmark"
      ],
      "name": "Karin A W Wadt"
    }
  ],
  "title": "Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution",
  "uid": "b75189e6-b818-50a2-a4a0-6d6c8c414b47"
}