Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma.
作者： Simon J Furney , Samra Turajlic , Gordon Stamp , Mahrokh Nohadani , Anna Carlisle
DOI: 10.1002/PATH.4204
关键词: Exome sequencing 、 Pathology 、 Cancer research 、 Germline mutation 、 Melanoma 、 Mutation 、 Biology 、 Mucosal melanoma 、 Exome 、 Cutaneous melanoma 、 Ultraviolet light
摘要: Mucosal melanoma displays distinct clinical and epidemiological features compared to cutaneous melanoma. Here we used whole genome exome sequencing characterize the somatic alterations mutation spectra in genomes of ten mucosal melanomas. We observed rates that are considerably lower than occur sun-exposed melanoma, but comparable seen cancers not associated with exposure known mutagens. In particular, signatures indicative ultraviolet light- or tobacco smoke-induced DNA damage. Genes previously reported as mutated other were also Notably, there substantially more copy number structural variations have been Thus, melanomas diseases discrete genetic features. Our data suggest different mechanisms underlie genesis these play a important role melanomagenesis.
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