(Q34477375)

2 August 2017

title

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

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2 August 2017

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Holly LaDuca

1

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2 August 2017

A J Stuenkel

2

1 reference

2 August 2017

Jill S Dolinsky

3

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2 August 2017

Steven Keiles

4

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2 August 2017

Stephany Tandy

5

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2 August 2017

Tina Pesaran

6

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2 August 2017

Elaine Chen

7

1 reference

2 August 2017

Chia-Ling Gau

8

1 reference

2 August 2017

Erika Palmaer

9

1 reference

2 August 2017

Kamelia Shoaepour

10

1 reference

2 August 2017

Divya Shah

11

1 reference

2 August 2017

Virginia Speare

12

1 reference

2 August 2017

Stephanie Gandomi

13

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2 August 2017

Elizabeth Chao

14

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2 August 2017

language of work or name

English

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publication date

24 April 2014

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2 August 2017

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2 August 2017

volume

16

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2 August 2017

issue

11

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2 August 2017

page(s)

830-837

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Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Genomic medicine: a decade of successes, challenges, and opportunities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

An integrated map of genetic variation from 1,092 human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

ATM mutations in patients with hereditary pancreatic cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Genetic diagnosis of familial breast cancer using clonal sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Colorectal cancer due to deficiency in DNA mismatch repair function: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

The International HapMap Project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

dbSNP: the NCBI database of genetic variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225457

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.40

The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24763289

12 December 2020

inferred from PubMed ID database lookup

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24763289

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24763289

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/GIM.2014.40

1 reference

release_mrgj3gcrdvaijlxemuw7eoc4pm

2 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mrgj3gcrdvaijlxemuw7eoc4pm

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4225457

1 reference

2 August 2017

1 reference