Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma (Q42338844)

27 October 2017

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma (English)

1 reference

27 October 2017

14

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1 June 2020

Aik Choon Tan

18

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1 June 2020

author name string

Jennifer D Hintzsche

1

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1 June 2020

Nicholas T Gorden

2

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1 June 2020

Carol M Amato

3

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1 June 2020

Jihye Kim

4

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1 June 2020

Kelsey E Wuensch

5

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1 June 2020

Steven E Robinson

6

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1 June 2020

Allison J Applegate

7

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1 June 2020

Kasey L Couts

8

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1 June 2020

Theresa M Medina

9

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1 June 2020

Keith R Wells

10

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1 June 2020

Joshua A Wisell

11

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1 June 2020

Martin D McCarter

12

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1 June 2020

Neil F Box

13

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1 June 2020

Rene C Gonzalez

15

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1 June 2020

Karl D Lewis

16

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1 June 2020

John J Tentler

17

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1 June 2020

William A Robinson

19

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1 June 2020

language of work or name

English

0 references

publication date

14 March 2017

1 reference

27 October 2017

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1 June 2020

volume

27

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1 June 2020

issue

3

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1 June 2020

page(s)

189-199

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Targeting the protein ubiquitination machinery in melanoma by the NEDD8-activating enzyme inhibitor pevonedistat (MLN4924).

1 June 2020

cites work

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Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations

29 May 2018

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IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples.

29 May 2018

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Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

29 May 2018

1 reference

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Interchangeable SF3B1 inhibitors interfere with pre-mRNA splicing at multiple stages

29 May 2018

1 reference

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Mucosal Melanoma: Epidemiology, Biology and Treatment

29 May 2018

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Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point

29 May 2018

1 reference

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The SF3B1 inhibitor spliceostatin A (SSA) elicits apoptosis in chronic lymphocytic leukaemia cells through downregulation of Mcl-1.

29 May 2018

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KEGG as a reference resource for gene and protein annotation

29 May 2018

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Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

29 May 2018

1 reference

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Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

29 May 2018

1 reference

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SF3B1 mutations constitute a novel therapeutic target in breast cancer

29 May 2018

1 reference

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Antitumor activity of the MEK inhibitor TAK-733 against melanoma cell lines and patient-derived tumor explants.

29 May 2018

1 reference

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COSMIC: exploring the world's knowledge of somatic mutations in human cancer

29 May 2018

1 reference

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Rare SF3B1 R625 mutations in cutaneous melanoma.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

The GIST of targeted therapy for malignant melanoma

29 May 2018

1 reference

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Splicing factor mutations and cancer

29 May 2018

1 reference

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Efficacy and safety of ipilimumab 3mg/kg in patients with pretreated, metastatic, mucosal melanoma

29 May 2018

1 reference

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Phase I pharmacokinetic and pharmacodynamic study of the first-in-class spliceosome inhibitor E7107 in patients with advanced solid tumors.

29 May 2018

1 reference

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SF3B1 mutations are associated with alternative splicing in uveal melanoma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal

29 May 2018

1 reference

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Predicting functional effect of human missense mutations using PolyPhen-2.

29 May 2018

1 reference

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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

CRNDE: A Long Non-Coding RNA Involved in CanceR, Neurobiology, and DEvelopment

29 May 2018

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Elucidating distinct roles for NF1 in melanomagenesis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

29 May 2018

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

29 May 2018

1 reference

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Mucosal melanoma: pathogenesis, clinical behavior, and management

29 May 2018

1 reference

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SF3B1 and other novel cancer genes in chronic lymphocytic leukemia

29 May 2018

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Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

29 May 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 May 2018

1 reference

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Distinct sets of genetic alterations in melanoma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

Identification of a human ribosomal protein mRNA with increased expression in colorectal tumours

29 May 2018

1 reference

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Identification of recurrent mutational events in anorectal melanoma.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

A chemical genetics approach for the functional assessment of novel cancer genes.

17 August 2018

1 reference

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Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470740

10.1097/CMR.0000000000000345

17 August 2018

Identifiers

DOI

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release_g33ftji4y5gxhpjt25adl67cji

1 June 2020

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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1 June 2020

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