ArticleJournal of medical genetics2011
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 220 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
220 citing papers in PubMed, 1 synthesis or guideline pooled it, 466 citations in OpenAlex.
- Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.BioMed research international · 2022Pooled it
- Senotherapeutic potential against xeroderma pigmentosum.Stem cell research & therapy · 2026Article
- Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Living with Xeroderma Pigmentosum: a qualitative study of the psychosocial challenges experienced by families of children with a rare skin disorder.Orphanet journal of rare diseases · 2026Article
- High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.Blood neoplasia · 2026Article
- Clinicopathological and molecular characterization of tumor-associated macrophages in sporadic and Xeroderma Pigmentosum-related cutaneous melanoma.BMC cancer · 2026Article
- Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model.Nature communications · 2026Article
- Dark Skin Evolution in Early Humans: Revisiting the Skin Cancer Hypothesis Through Migration-Related Mismatch.Molecular biology and evolution · 2026Review
- XPA confers ability of endonucleases to act processively and to incise damaged nucleosomal DNA.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- mRNA-based therapies: From molecular discovery to clinical revolution.Genetics and molecular biology · 2026Article
- Malignant Transformation and Management of Cutaneous Squamous Cell Carcinoma in a 7-Year-Old Child with Xeroderma Pigmentosum: A Case Report from Somaliland.International medical case reports journal · 2026Article
- Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.Cells · 2025Article
- Response to pembrolizumab in a patient with xeroderma pigmentosum, metastatic cutaneous melanoma and multiple squamous cell carcinomas: a case report.Skin health and disease · 2025Article
- Article
- Four germline POLH variants, including two found in skin tumors, impair DNA polymerase η function and cellular tolerance to UV radiation and cisplatin.Chemico-biological interactions · 2025Article
- Article
- Uniquely high spontaneous mutational load in blood cells of XP-C patients.bioRxiv : the preprint server for biology · 2025Article
- High-Frequency Basal Cell Carcinoma: Demographic, Clinical, and Histopathological Features in a Belgian Cohort.Journal of clinical medicine · 2025Article
- Article
- Ophthalmic and Cutaneous Manifestation of Xeroderma Pigmentosum in a 21-Year-Old Man: A Case Report.Cureus · 2025Article
160 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundThe frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study.
methodsAll 106 XP patients admitted to the National Institutes of Health from 1971 to 2009 were evaluated from clinical records and follow-up.
resultsIn the 65 per cent (n=69) of patients with skin cancer, non-melanoma skin cancer (NMSC) was increased 10,000-fold and melanoma was increased 2000-fold in patients under age 20. The 9 year median age at diagnosis of first non-melanoma skin cancer (NMSC) (n=64) was significantly younger than the 22 year median age at diagnosis of first melanoma (n=38)-a relative age reversal from the general population suggesting different mechanisms of carcinogenesis between NMSC and melanoma. XP patients with pronounced burning on minimal sun exposure (n=65) were less likely to develop skin cancer than those who did not. This may be related to the extreme sun protection they receive from an earlier age, decreasing their total ultraviolet exposure. Progressive neurologic degeneration was present in 24% (n=25) with 16/25 in complementation group XP-D. The most common causes of death were skin cancer (34%, n=10), neurologic degeneration (31%, n=9), and internal cancer (17%, n=5). The median age at death (29 years) in XP patients with neurodegeneration was significantly younger than those XP patients without neurodegeneration (37 years) (p=0.02).
conclusionThis 39 year follow-up study of XP patients indicates a major role of DNA repair genes in the aetiology of skin cancer and neurologic degeneration.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.