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XPV

Thursday 22 July 2010

Xeroderma pigmentosum variant (XPV) is a rare recessive autosomal genodermatosis predisposing to multiple early onset skin cancers, including melanoma.

Xeroderma pigmentosum variant (XPV) results from mutations of the POLH gene that encodes a DNA translesion polymerase.

Besides severe deficiencies in translesion synthesis which are major risks factors for skin carcinomas and melanomas, less deleterious POLH variants could act as low penetrance melanoma predisposing alleles.

Pathology

- XPV type of xeroderma pigmentosum is caused by mutations in the DNA polymerase eta gene (POLH) (MIM.603968).

References

- Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. Di Lucca J, Guedj M, Lacapère JJ, Fargnoli MC, Bourillon A, DieudĂ© P, Dupin N, Wolkenstein P, Aegerter P, Saiag P, Descamps V, Lebbe C, Basset-Seguin N, Peris K, Grandchamp B, Soufir N. Eur J Cancer. 2009 Dec;45(18):3228-36. PMID: 19477635