Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival
| العنوان: | Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival |
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| المؤلفون: | Nicolas Dupin, Nadem Soufir, Alain Sarasin, S. Regnier, Jean-Jacques Lacapère, M.-F. Avril, G. Hetet, D. Pham, Bernard Grandchamp, André Palangié, Agnes Bourillon, Isabelle Gorin, S. Jacobelli |
| المصدر: | British Journal of Dermatology. 159:968-973 |
| بيانات النشر: | Oxford University Press (OUP), 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Mutation, Missense, Dermatology, Biology, Gene mutation, medicine.disease_cause, White People, Frameshift mutation, Neoplasms, Multiple Primary, Exon, medicine, Humans, Missense mutation, Survivors, Frameshift Mutation, Melanoma, Pigmentation disorder, Aged, 80 and over, Genetics, Xeroderma Pigmentosum, Mutation, medicine.disease, DNA-Binding Proteins, Phenotype, Cancer research, Female |
| الوصف: | 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. |
| تدمد: | 1365-2133 0007-0963 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0d7813ca05d2cb6a73c1d059b513d7Test https://doi.org/10.1111/j.1365-2133.2008.08791.xTest |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....ca0d7813ca05d2cb6a73c1d059b513d7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13652133 00070963 |
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