Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA.
Hum Mutat. 2011 Jun;32(6):E2148-75. doi: 10.1002/humu.21477. Epub 2011 Feb 24.
We performed a mutational analysis of the 19 disintegrin-metalloproteinases (ADAMs) genes in human cutaneous metastatic melanoma and identified eight to be somatically mutated in 79 samples, affecting 34% of the melanoma tumors analyzed. Functional analysis of the two frequently mutated ADAM genes, ADAM29 and ADAM7 demonstrated that the mutations affect adhesion of melanoma cells to specific extracellular matrix proteins and in some cases increase their migration ability. This suggests that mutated ADAM genes could play a role in melanoma progression.
我们对 19 种解整合素金属蛋白酶（ADAMs）基因在人类皮肤转移性黑色素瘤中的突变进行了分析，在 79 个样本中发现了 8 种基因发生了体细胞突变，占分析的黑色素瘤肿瘤的 34%。对两个经常发生突变的 ADAM 基因（ADAM29 和 ADAM7）的功能分析表明，这些突变影响黑色素瘤细胞与特定细胞外基质蛋白的黏附，在某些情况下还增加了它们的迁移能力。这表明突变的 ADAM 基因可能在黑色素瘤的进展中发挥作用。
