{
  "abstract": "The molecular pathogenesis of port-wine stains (PWS) is primarily associated with somatic gain-of-function mutations in the GNAQ and GNA11 genes, with the RASA1 gene implicated in syndromic and inherited forms.1 2 The recent article by Xue et al 3 in the Journal of Clinical Pathology provides valuable clinicopathological insights into sporadic hypertrophic PWS, including a report of a novel GNAQ p.G48V mutation. However, we wish to highlight a potential pitfall in the interpretation of the two reported BCORL1 variants (p.T1111M and p.G1391R), which are described as somatic mutations in two male patients. Based on fundamental genetic principles, the data presented in the article itself may suggest that these variants are of germline, not somatic origin.",
  "authors": [
    {
      "affiliations": [
        "Department of Pathology, National University Hospital, Singapore"
      ],
      "name": "Kok-Siong Poon"
    },
    {
      "affiliations": [
        "Department of Pathology, National University Hospital, Singapore"
      ],
      "name": "Kah Weng Lau"
    }
  ],
  "title": "Pitfalls in variant interpretation: a critical re-evaluation of somatic versus germline classifications",
  "uid": "aa26875b-bb33-5eb1-8e36-3dc2c5bd9cb2"
}