Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. (Q43806776)

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28 February 2020

title

Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma (English)

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2

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Francesco Marass

7

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28 February 2020

Tim Forshew

14

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12

Andrew P May

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28 February 2020

author name string

Lucy Gossage

1

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28 February 2020

Andrew F Slatter

3

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28 February 2020

Conrad P Lichtenstein

4

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28 February 2020

Anne Warren

5

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28 February 2020

Beverley Haynes

6

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28 February 2020

Ian Roberts

8

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28 February 2020

Susan J Shanahan

9

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28 February 2020

Andreas Claas

10

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28 February 2020

Andrew Dunham

11

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Nitzan Rosenfeld

13

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Tim Eisen

15

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publication date

29 October 2013

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Genes, Chromosomes and Cancer

28 February 2020

published in

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28 February 2020

volume

53

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28 February 2020

issue

1

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28 February 2020

page(s)

38-51

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A method and server for predicting damaging missense mutations

28 February 2020

cites work

1 reference

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

21 January 2018

1 reference

Common PIK3CA mutants and a novel 3' UTR mutation are associated with increased sensitivity to saracatinib.

21 January 2018

1 reference

An intronic mutation in MLH1 associated with familial colon and breast cancer.

21 January 2018

1 reference

The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma

21 January 2018

1 reference

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

21 January 2018

1 reference

Reflex: intramolecular barcoding of long-range PCR products for sequencing multiple pooled DNAs

21 January 2018

1 reference

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

21 January 2018

1 reference

Predicting the functional effect of amino acid substitutions and indels

21 January 2018

1 reference

Comprehensive molecular characterization of clear cell renal cell carcinoma

21 January 2018

1 reference

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

21 January 2018

1 reference

Somatic deletions of the polyA tract in the 3' untranslated region of epidermal growth factor receptor are common in microsatellite instability-high endometrial and colorectal carcinomas

21 January 2018

1 reference

An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein

21 January 2018

1 reference

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

21 January 2018

1 reference

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

21 January 2018

1 reference

Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA.

21 January 2018

1 reference

Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms

21 January 2018

1 reference

A genetic screen identifies novel polycomb group genes in Drosophila

21 January 2018

1 reference

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

21 January 2018

1 reference

Mutations of the VHL tumour suppressor gene in renal carcinoma

21 January 2018

1 reference

Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma

21 January 2018

1 reference

Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma

21 January 2018

1 reference

Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network

21 January 2018

1 reference

Frequent mutation of BAP1 in metastasizing uveal melanomas

21 January 2018

1 reference

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

21 January 2018

1 reference

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

21 January 2018

1 reference

TERT promoter mutations in familial and sporadic melanoma

21 January 2018

1 reference

Highly recurrent TERT promoter mutations in human melanoma

21 January 2018

1 reference

Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation

21 January 2018

1 reference

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutational heterogeneity in cancer and the search for new cancer-associated genes

21 January 2018

1 reference

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

21 January 2018

1 reference

The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1.

21 January 2018

1 reference

CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.

21 January 2018

1 reference

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

21 January 2018

1 reference

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

21 January 2018

1 reference

Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1

21 January 2018

1 reference

BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity

21 January 2018

1 reference

BAP1 loss defines a new class of renal cell carcinoma

21 January 2018

1 reference

The polymorphisms in the VHL and HIF1A genes are associated with the prognosis but not the development of renal cell carcinoma.

21 January 2018

1 reference

Renal cyst development in mice with conditional inactivation of the von Hippel-Lindau tumor suppressor

21 January 2018

1 reference

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

21 January 2018

1 reference

VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations

21 January 2018

1 reference

Integrated molecular analysis of clear-cell renal cell carcinoma

21 January 2018

1 reference

Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB

21 January 2018

1 reference

Mutations within the 5' region of FAS/CD95 gene in nodal diffuse large B-cell lymphoma

21 January 2018

1 reference

Single nucleotide polymorphisms and risk of recurrence of renal-cell carcinoma: a cohort study

21 January 2018

1 reference

Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer

21 January 2018

1 reference

A del T poly T (8) mutation in the 3' untranslated region (UTR) of the CDK2-AP1 gene is functionally significant causing decreased mRNA stability resulting in decreased CDK2-AP1 expression in human microsatellite unstable (MSI) colorectal cancer (CR

21 January 2018

1 reference

Detecting causality in complex ecosystems

21 January 2018

1 reference

Polybromo-1: the chromatin targeting subunit of the PBAF complex

21 January 2018

1 reference

Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10K single nucleotide polymorphism mapping array

21 January 2018

1 reference

E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases.

21 January 2018

1 reference

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

21 January 2018

1 reference

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

21 January 2018

1 reference

BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization

21 January 2018

1 reference

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency

21 January 2018

1 reference

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

21 January 2018

1 reference

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma

21 January 2018

1 reference

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

21 January 2018

1 reference

Prognostic significance of morphologic parameters in renal cell carcinoma.

21 January 2018

1 reference

7 January 2021

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1

1 reference

7 January 2021

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma

1 reference

7 January 2021

A frequent somatic mutation in CD274 3'-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.22116

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28 February 2020

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