ArticleNature communications2020
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- The DNA damage response and cancer immunotherapy.Nature reviews. Cancer · 2026Review
- Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Two Faces of UV Mutagenesis: Independent and Collateral Mutagenesis in Skin Cancers.Life (Basel, Switzerland) · 2026Article
- Acute Myeloid Leukemia in a Patient With Xeroderma Pigmentosum: A Case Report.Clinical case reports · 2026Article
- High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.Blood neoplasia · 2026Article
- Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.Cells · 2025Article
- Tissue-specific mutagenesis from endogenous guanine damage is suppressed by Polκ and DNA repair.Nature communications · 2025Article
- Uniquely high spontaneous mutational load in blood cells of XP-C patients.bioRxiv : the preprint server for biology · 2025Article
- Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.Genome medicine · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Diffuse large B-cell lymphoma with cutaneous involvement in a patient with xeroderma pigmentosum type C.JAAD case reports · 2024Article
- Article
- Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series.Communications medicine · 2023Article
- The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.Cancers · 2023Article
- Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.Nature communications · 2023Article
- Pathological consequences of DNA damage in the kidney.Nature reviews. Nephrology · 2023Review
- Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.bioRxiv : the preprint server for biology · 2023Article
- Genetic variants inCancer innovation · 2022Article
- Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.Orphanet journal of rare diseases · 2022Article
- Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). The genetic mechanisms of non-skin cancers in XP-C patients remain unexplored. In this study, we analyze a unique collection of internal XP-C tumor genomes including 6 leukemias and 2 sarcomas. We observe a specific mutational pattern and an average of 25-fold increase of mutation rates in XP-C versus sporadic leukemia which we presume leads to its elevated incidence and early appearance. We describe a strong mutational asymmetry with respect to transcription and the direction of replication in XP-C tumors suggesting association of mutagenesis with bulky purine DNA lesions of probably endogenous origin. These findings suggest existence of a balance between formation and repair of bulky DNA lesions by GG-NER in human body cells which is disrupted in XP-C patients.
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