Driver mutations in melanoma
نویسندگان
چکیده
منابع مشابه
A Landscape of Driver Mutations in Melanoma
Despite recent insights into melanoma genetics, systematic surveys for driver mutations are challenged by an abundance of passenger mutations caused by carcinogenic UV light exposure. We developed a permutation-based framework to address this challenge, employing mutation data from intronic sequences to control for passenger mutational load on a per gene basis. Analysis of large-scale melanoma ...
متن کاملKin-Driver: a database of driver mutations in protein kinases
Somatic mutations in protein kinases (PKs) are frequent driver events in many human tumors, while germ-line mutations are associated with hereditary diseases. Here we present Kin-driver, the first database that compiles driver mutations in PKs with experimental evidence demonstrating their functional role. Kin-driver is a manual expert-curated database that pays special attention to activating ...
متن کاملSynonymous Mutations Frequently Act as Driver Mutations in Human Cancers
Synonymous mutations change the sequence of a gene without directly altering the sequence of the encoded protein. Here, we present evidence that these "silent" mutations frequently contribute to human cancer. Selection on synonymous mutations in oncogenes is cancer-type specific, and although the functional consequences of cancer-associated synonymous mutations may be diverse, they recurrently ...
متن کاملDriver and passenger mutations in cancer.
Next-generation sequencing has allowed identification of millions of somatic mutations and epigenetic changes in cancer cells. A key challenge in interpreting cancer genomes and epigenomes is distinguishing which genetic and epigenetic changes are drivers of cancer development. Frequency-based and function-based approaches have been developed to identify candidate drivers; we discuss the advant...
متن کاملMITF pathway mutations in melanoma.
Microphthalmia-associated transcription factor (MITF), a key regulator of melanocyte development, belongs to the class of basic-helix ⁄ loop ⁄ helixleucine-zipper transcription factors. Microphthalmia-associated transcription factor regulates multiple genes related to melanin synthesis (e.g. TYR, DCT), control of apoptosis (e.g. BCL2) and cell cycle progression (e.g. p21, p16, CDK2, TBX2) as we...
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ژورنال
عنوان ژورنال: Libri Oncologici : Croatian Journal of Oncology
سال: 2018
ISSN: 0300-8142,2584-3826
DOI: 10.20471/lo.2018.46.01.04