黑色素瘤遗传易感性的研究进展。

Update in genetic susceptibility in melanoma.

机构信息

1 Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain ; 2 Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain ; 3 Molecular Biology and Genetics Department, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.

出版信息

Ann Transl Med. 2015 Sep;3(15):210. doi: 10.3978/j.issn.2305-5839.2015.08.11.

Abstract

Melanoma is the most deadly of the common skin cancers and its incidence is rapidly increasing. Approximately 10% of cases occur in a familial context. To date, cyclin-dependent kinase inhibitor 2A (CDKN2A), which was identified as the first melanoma susceptibility gene more than 20 years ago, is the main high-risk gene for melanoma. A few years later cyclin-dependent kinase 4 (CDK4) was also identified as a melanoma susceptibility gene. The technologic advances have allowed the identification of new genes involved in melanoma susceptibility: Breast cancer 1 (BRCA1) associated protein 1 (BAP1), CXC genes, telomerase reverse transcriptase (TERT), protection of telomeres 1 (POT1), ACD and TERF2IP, the latter four being involved in telomere maintenance. Furthermore variants in melanocortin 1 receptor (MC1R) and microphthalmia-associated transcription factor (MITF) give a moderately increased risk to develop melanoma. Melanoma genetic counseling is offered to families in order to better understand the disease and the genetic susceptibility of developing it. Genetic counseling often implies genetic testing, although patients can benefit from genetic counseling even when they do not fulfill the criteria for these tests. Genetic testing for melanoma predisposition mutations can be used in clinical practice under adequate selection criteria and giving a valid test interpretation and genetic counseling to the individual.

摘要

黑素瘤是最致命的常见皮肤癌之一,其发病率正在迅速上升。大约 10%的病例发生在家族环境中。迄今为止,细胞周期蛋白依赖性激酶抑制剂 2A(CDKN2A)在 20 多年前被确定为第一个黑色素瘤易感基因,是黑色素瘤的主要高危基因。几年后,细胞周期蛋白依赖性激酶 4(CDK4)也被确定为黑色素瘤易感基因。技术进步使得鉴定参与黑色素瘤易感性的新基因成为可能:乳腺癌 1(BRCA1)相关蛋白 1(BAP1)、CXC 基因、端粒酶逆转录酶(TERT)、端粒保护蛋白 1(POT1)、ACD 和 TERF2IP,后四个基因参与端粒维持。此外,黑素皮质素 1 受体(MC1R)和小眼畸形相关转录因子(MITF)的变异也会导致黑色素瘤发病风险适度增加。为了更好地了解疾病和易感性,向家族提供黑色素瘤遗传咨询。遗传咨询通常意味着基因检测,尽管即使患者不符合这些测试的标准,他们也可以从遗传咨询中受益。在适当的选择标准下,黑色素瘤易感性突变的基因检测可用于临床实践,并对个体进行有效的测试解释和遗传咨询。

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