Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
Nature genetics, 2013•nature.com
Uveal melanoma is the most common primary cancer of the eye and often results in fatal
metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1
gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good
prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1
mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1
gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good
prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1
mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
Abstract
Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
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