title: Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.
abstract: We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA. Two biallelic mutations in the XPC gene are reported: an inactivating frameshift mutation in exon 15 (c.2544delG, p.W848X) and a missense mutation in exon 11 (c.2108 C>T, P703L). We demonstrate that these new mutations are involved in the DNA repair deficiency and confirm the diagnosis of xeroderma pigmentosum from complementation group C (XP-C). We speculate that the coexistence of a MC1R variant may be involved in the phenotype of multiple melanomas and that the unusual long-term survival may be related to a lower ultraviolet radiation exposure and to a regular clinical follow-up. This patient appears to be the first French Caucasian XP-C case and one of the oldest living patients with XP reported worldwide.
authors: Department of Dermatology, Tarnier-Cochin Hospital APHP, UPRES EA1833, Faculty of Medicine Paris 5, 89 rue d'Assas, 75006 Paris, France. s.jacobelli@voila.fr
authors: S
authors: S
authors: Jacobelli
authors: N
authors: N
authors: Soufir
authors: J J
authors: JJ
authors: Lacapere
authors: S
authors: S
authors: Regnier
authors: A
authors: A
authors: Bourillon
authors: B
authors: B
authors: Grandchamp
authors: G
authors: G
authors: Hétet
authors: D
authors: D
authors: Pham
authors: A
authors: A
authors: Palangie
authors: M F
authors: MF
authors: Avril
authors: N
authors: N
authors: Dupin
authors: A
authors: A
authors: Sarasin
authors: I
authors: I
authors: Gorin
mesh_terms: D000369:Aged, 80 and over; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D017741:Survivors; D044465:White People; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human