Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
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DOI：
10.1155/2022/8549532
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发表时间：
2022
影响因子：
--
通讯作者：
Bassetto, Franco
中科院分区：
文献类型：
--
作者：
Brambullo, Tito;Colonna, Michele Rosario;Vindigni, Vincenzo;Piaserico, Stefano;Masciopinto, Giuseppe;Galeano, Mariarosaria;Costa, Alfio Luca;Bassetto, Franco
着色性干皮病（XP）是一种罕见的常染色体隐性紫外线辐射引起的损伤修复疾病，其特征是光敏性和在早期发展为皮肤癌的倾向。本文系统综述了XP与皮肤癌的临床、病理和遗传方面的相关性。通过在线数据库PubMed、Cochrane Library、SciELO和谷歌Scholar进行文献检索进行系统评价。搜索词是“着色性干皮病”、“XP”、“XPC”、“核苷酸切除修复”、“NER”、“POLH”、“干性色素皮肤”和“紫外线敏感综合征”，与“皮肤癌”、“黑色素瘤”和“NMSC”相匹配。在504篇摘要筛选后，13篇全文文章被评估为合格，其中3篇被排除。选取10篇文章进行定性评价。由于皮肤癌和神经退行性疾病，XP患者的寿命通常较短。不同基因等位基因的缺失/改变可以产生不同类型的癌症。XPC和XP-E变体比其他补体组的患者更容易患皮肤癌，这些患者最常见的死亡原因是皮肤癌（转移性黑色素瘤或侵袭性SCC）。尽管如此，积极的预防措施，尽量减少紫外线辐射的暴露，可以延缓疾病的进程，提高生活质量。
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induced damage repair that is characterized by photosensitivity and a propensity for developing, among many others, skin cancers at an early age. This systematic review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer. A systematic review was conducted through a literature search of online databases PubMed, Cochrane Library, SciELO, and Google Scholar. Search terms were “Xeroderma pigmentosum”, “XP”, “XPC”, “Nucleotide excision repair”, “NER”, “POLH”, “Dry pigmented skin”, and “UV sensitive syndrome” meshed with the terms “Skin cancer”, “Melanoma”, and “NMSC”. After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded. Ten articles were selected for qualitative assessment. Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease. Deletion/alteration of a distinct gene allele can produce different types of cancer. The XPC and XP-E variants are more likely to have skin cancer than patients in other complement groups, and the most common cause of death for these patients is skin cancer (metastatic melanoma or invasive SCC). Still, aggressive preventative measures to minimize UV radiation exposure can retard the course of the disease and improve the quality of life.
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影响因子：
10.4
作者：
Applebaum KM;Karagas MR;Hunter DJ;Catalano PJ;Byler SH;Morris S;Nelson HH
通讯作者：
Nelson HH
影响因子：
4.6
作者：
Goncalves, Fernanda T.;Francisco, Guilherme;Eluf-Neto, Jose
通讯作者：
Eluf-Neto, Jose
DOI：
10.1016/j.mrfmmm.2014.08.007
发表时间：
2015-06-01
影响因子：
2.3
作者：
Dupuy, Aurelie;Sarasin, Alain
通讯作者：
Sarasin, Alain
DOI：
10.1016/j.canrad.2016.07.026
发表时间：
2016-09-01
期刊：
Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique
影响因子：
--
作者：
Hennequin, C;Rio, E;Mahe, M-A
通讯作者：
Mahe, M-A
影响因子：
8.4
作者：
Hong, Angela M.;Waldstein, Cora;Long, Georgina, V
通讯作者：
Long, Georgina, V