Papakostas Dimitrios, Stefanaki Irene, Stratigos Alexander
Department of Dermatology, Dermatooncology Unit, A. Syggros Hospital, University of Athens, Greece.
Melanoma Manag. 2015 May;2(2):165-169. doi: 10.2217/mmt.15.7. Epub 2015 May 18.
Germline mutations were the first to be associated with familial melanoma. polymorphisms are associated, in conformity with epidemiological observations, with fair skin phenotype and a moderately increased risk for melanoma. The wider implementation of genome-wide association studies along with improved whole exome sequencing techniques made possible the identification of novel high-penetrant mutations (, , , ) beyond the established pathways of pigmentation and nevus count suggesting an additional role for pathways involved in cell cycle control and DNA repair. A multitude of common polymorphisms in the general population have been associated through candidate gene studies with a low risk for melanoma, supporting the hypothesis of a complex disease.
种系突变是最早与家族性黑色素瘤相关的突变。根据流行病学观察，多态性与白皙皮肤表型以及黑色素瘤风险适度增加相关。全基因组关联研究的更广泛开展以及改进的全外显子组测序技术，使得在色素沉着和痣计数的既定途径之外，能够识别出新的高穿透性突变（， , , ），这表明细胞周期控制和DNA修复相关途径发挥了额外作用。通过候选基因研究，普通人群中的大量常见多态性已被证明与黑色素瘤低风险相关，支持了这是一种复杂疾病的假说。
