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Article

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.

European journal of cancer (Oxford, England : 1990) - 1 Dec 2009

Di Lucca Julie, Guedj Mickael, Lacapère Jean-Jacques, Fargnoli Maria Concetta, Bourillon Agnes, Dieudé Philippe, Dupin Nicolas, Wolkenstein Pierre, Aegerter Philippe, Saiag Philippe, Descamps Vincent, Lebbe Celeste, Basset-Seguin Nicole, Peris Ketty, Grandchamp Bernard, Soufir Nadem

Abstract excerpt

PURPOSE: Xeroderma pigmentosum variant (XPV) is a rare recessive autosomal genodermatosis predisposing to multiple early onset skin cancers, including melanoma. XPV results from mutations of the POLH gene that encodes a DNA translesion polymerase. In this work, we tested the hypothesis that POLH...

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Source

Identifiers

PMID: 19477635
DOI: 10.1016/j.ejca.2009.04.034

Genes

POLH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19477635-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.PMID 19477635Read ↗

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.Semantic proximity Read ↗

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.Semantic proximity Read ↗

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular EtiologySemantic proximity Read ↗

Xeroderma pigmentosum genes and melanoma risk.Semantic proximity Read ↗

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.Semantic proximity Read ↗

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.Semantic proximity Read ↗

Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA RepairSemantic proximity Read ↗

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl.Semantic proximity Read ↗

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.Semantic proximity Read ↗

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.Semantic proximity Read ↗

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Semantic proximity Read ↗

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study.Semantic proximity Read ↗

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