Improving performance of multigene panels for genomic analysis of cancer predisposition. (Q45026844)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26845104%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Improving performance of multigene panels for genomic analysis of cancer predisposition (English)

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7 March 2020

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7 March 2020

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7 March 2020

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7 March 2020

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7 March 2020

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7 March 2020

Brian H Shirts

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7 March 2020

Silvia Casadei

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7 March 2020

Angela L Jacobson

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7 March 2020

Ming K Lee

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7 March 2020

Suleyman Gulsuner

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7 March 2020

Robin L Bennett

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7 March 2020

Margaret Miller

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7 March 2020

Fuki M Hisama

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7 March 2020

Lorraine V Naylor

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7 March 2020

Cathleen Goetsch

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7 March 2020

Kathleen Leppig

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7 March 2020

Jonathan F Tait

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7 March 2020

Sheena M Scroggins

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7 March 2020

Stephen J Salipante

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7 March 2020

Tom Walsh

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7 March 2020

Colin C Pritchard

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7 March 2020

language of work or name

English

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publication date

4 February 2016

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7 March 2020

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7 March 2020

volume

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7 March 2020

issue

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7 March 2020

page(s)

974-981

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

7 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Gene panel testing for inherited cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Clinical interpretation and implications of whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Characteristics of neutral and deleterious protein-coding variation among individuals and populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

ClinVar: public archive of relationships among sequence variation and human phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Actionable, pathogenic incidental findings in 1,000 participants' exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.212

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

21 January 2018

1 reference

12 December 2020

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

1 reference

12 December 2020

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

1 reference

12 December 2020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

12 December 2020

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

1 reference

12 December 2020

Use of panel tests in place of single gene tests in the cancer genetics clinic.

1 reference

12 December 2020