{
  "abstract": "Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive DNA repair disorders. XP is characterized by extreme sensitivity to UV radiation and a very high risk of skin cancer. To date, little is known about the clinical characteristics and genetic basis of these diseases in Russia. Here, we present a detailed study of 14 patients (aged 6–30 years) from 11 unrelated families of diverse ethnic backgrounds. Using a multigene panel or whole-genome sequencing, we identified patients with homozygous or compound heterozygous variants in XPC (n = 8), XPA (n = 4), DDB2 (n = 1), and ERCC6 (n = 1). Two XP and one CS cases were presented in one family. A total of 110 relatives were screened to determine carrier status. Skin cancer was revealed in 100% of the 13 XP patients; the median age at first manifestation was 13 years (range 5–23). Basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma developed in 10, 7, and 3 patients, respectively. All three cancer types occurred in two patients. The patients underwent surgical treatment; additionally, two patients with BCC received targeted therapy (vismodegib, sonidegib). Anti-PD-1 immunotherapy was administered successfully in three patients with multiple or advanced skin tumors.",
  "abstract_shown": true,
  "affiliations": [
    "N.N. Blokhin National Medical Research Center of Oncology, 115478 Moscow, Russia",
    "Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, 119991 Moscow, Russia",
    "Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia",
    "Research Center for Medical Genetics, 115522 Moscow, Russia",
    "Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, 125412 Moscow, Russia",
    "Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University, 119571 Moscow, Russia",
    "Department of Oncology, Sechenov First Moscow State Medical University, 119048 Moscow, Russia",
    "National Medical Research Radiological Center of the Ministry of Health of the Russian Federation, 125284 Moscow, Russia",
    "Department of Oncology, Radiation Therapy and Radiology named after Professor N.E. Yakhontov, Privolzhsky Research Medical University, 603005 Nizhny Novgorod, Russia"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 17,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Tatiana Belysheva",
      "orcid": "0000-0001-5911-553X"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Tatiana Nasedkina",
      "orcid": "0000-0002-2642-4202"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ekaterina Zelenova",
      "orcid": "0000-0002-2197-8863"
    },
    {
      "affs": [
        1
      ],
      "name": "Vera Semenova"
    },
    {
      "affs": [
        3
      ],
      "name": "Peter Sparber",
      "orcid": "0000-0002-9160-0794"
    },
    {
      "affs": [
        0
      ],
      "name": "Elena Sharapova"
    },
    {
      "affs": [
        0
      ],
      "name": "Denis Sofronov"
    },
    {
      "affs": [
        4
      ],
      "name": "Marina Dorofeeva"
    },
    {
      "affs": [
        4
      ],
      "name": "Olga Bozhko"
    },
    {
      "affs": [
        0
      ],
      "name": "Yana Vishnevskaya"
    },
    {
      "affs": [
        5
      ],
      "name": "Irina Kletskaya",
      "orcid": "0000-0002-8552-7682"
    },
    {
      "affs": [
        0
      ],
      "name": "Svetlana Mikhaylova"
    },
    {
      "affs": [
        0,
        6
      ],
      "name": "Timur Valiev",
      "orcid": "0000-0002-1469-2365"
    },
    {
      "affs": [
        0
      ],
      "name": "Natalia Petenko"
    },
    {
      "affs": [
        0,
        7,
        8
      ],
      "name": "Kristina Orlova",
      "orcid": "0000-0002-0442-5917"
    },
    {
      "affs": [
        0
      ],
      "name": "Igor Samoilenko"
    },
    {
      "affs": [
        0
      ],
      "name": "Svetlana Varfolomeeva"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/by4yss94kcrqy.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27219889",
  "fulltext_url": null,
  "id": "by4yss94kcrqy",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/21/9889",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-04",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/by4yss94kcrqy.ris",
  "sources": [
    {
      "first_seen": "2026-11-05T00:20:58Z",
      "native_id": "10.3390/ijms27219889",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/21/9889"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "issn:1422-0067",
      "subfield": "general"
    }
  ],
  "title": "Clinical Features, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience",
  "title_text": "Clinical Features, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T00:21:14Z",
  "url": "https://research.draconitic.com/paper/by4yss94kcrqy",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}