(Q35911314)

English

Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression

scientific article published on 17 November 2015

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scholarly article

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Europe PubMed Central

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11 August 2017

Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression (English)

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11 August 2017

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John H Petrini

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Marc Ladanyi

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Marcia Edelweiss

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Marcia Edelweiss

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Jose Baselga

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Jorge Reis-Filho

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Jorge S Reis-Filho

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Ino De Bruijn

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Raymond S Lim

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Luciano G. Martelotto

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Luciano G Martelotto

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Salvatore Piscuoglio

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Salvatore Piscuoglio

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Britta Weigelt

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Larry Norton

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Felipe C Geyer

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Caterina Marchiò

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Caterina Marchio

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Kathleen A Burke

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Edi Brogi

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Muzaffar Akram

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Anastasios Papanastasiou

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Anastasios D Papanastasiou

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Rafael A Ioris

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David B Solit

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author name string

Charlotte Ky Ng

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Melissa Murray

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Gabriel S Macedo

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Akiko Inagaki

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Pooja K Nahar

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Lillian Smyth

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Dara Ross

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11 August 2017

publication date

17 November 2015

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11 August 2017

Journal of Pathology

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11 August 2017

238

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4

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11 August 2017

508-518

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11 August 2017

Genomic landscapes of breast fibroepithelial tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors of the breast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

TERT promoter mutations in primary liver tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Cancer-associated TERT promoter mutations abrogate telomerase silencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

The C228T mutation of TERT promoter frequently occurs in bladder cancer stem cells and contributes to tumorigenesis of bladder cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

ATRX represses alternative lengthening of telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

TERT promoter mutations and telomere length in adult malignant gliomas and recurrences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Cancer. TERT promoter mutations and telomerase reactivation in urothelial cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Breast pathology second review identifies clinically significant discrepancies in over 10% of patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

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Genome-wide analysis of noncoding regulatory mutations in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

The activating TERT promoter mutation C228T is recurrent in subsets of adrenal tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

TERT promoter mutations in cancer development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Discovery and saturation analysis of cancer genes across 21 tumour types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Mutational landscape and significance across 12 major cancer types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Frequency of TERT promoter mutations in human cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Phyllodes tumor of breast: a review article

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Evolution and impact of subclonal mutations in chronic lymphocytic leukemia

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma

1 reference

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Predicting the functional effect of amino acid substitutions and indels

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

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Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

1 reference

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11 July 2018

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

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11 July 2018

Absolute quantification of somatic DNA alterations in human cancer

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11 July 2018

The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

1 reference

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VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

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11 July 2018

Predicting clinical behaviour of breast phyllodes tumours: a nomogram based on histological criteria and surgical margins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

A quantitative PCR method for measuring absolute telomere length

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4962788

11 July 2018

Integrative genomics viewer

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MutationTaster evaluates disease-causing potential of sequence alterations

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

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Phyllodes tumor of the breast.

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Telomerase and telomere length in multiple myeloma: correlations with disease heterogeneity, cytogenetic status, and overall survival

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Histologic features predict local recurrence after breast conserving therapy of phyllodes tumors

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TERT Promoter Mutations in Papillary Thyroid Microcarcinomas.

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TERT promoter mutations in clear cell renal cell carcinoma.

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The molecular underpinning of lobular histological growth pattern: a genome-wide transcriptomic analysis of invasive lobular carcinomas and grade- and molecular subtype-matched invasive ductal carcinomas of no special type.

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Phyllodes tumors of the breast: a case series of 106 patients

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Risk factors for recurrence and death after primary surgical treatment of malignant phyllodes tumors

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Two-sided confidence intervals for the single proportion: comparison of seven methods by Robert G. Newcombe, Statistics in Medicine 1998; 17:857-872.

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Probable Inference, the Law of Succession, and Statistical Inference

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Phyllodes tumor of the breast: the challenge persists

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12 December 2020

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10.1002/PATH.4672

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

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Europe PubMed Central

PMC publication ID

11 August 2017

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