(Q36890898)

English

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

scientific article published on May 2016

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Vignesh Ravichandran

object named as

Vignesh Ravichandran

8

0 references

Kasmintan A Schrader

object named as

Kasmintan A Schrader

4

0 references

object named as

Steven N Hart

2

0 references

Susan M Domchek

13

object named as

Susan M Domchek

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Susan L Neuhausen

16

object named as

Susan L Neuhausen

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Katherine L Nathanson

20

object named as

Katherine L Nathanson

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Fergus J. Couch

19

object named as

Fergus J Couch

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

3

object named as

Joseph Vijai

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

18

object named as

Kenneth Offit

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Jeffrey N Weitzel

17

object named as

Jeffrey N Weitzel

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

author name string

Kara N Maxwell

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Thomas P Slavin

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Tinu Thomas

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Bradley Wubbenhorst

7

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Raymond M Moore

9

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Chunling Hu

10

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Lucia Guidugli

11

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Brandon Wenz

12

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Mark E Robson

14

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Csilla Szabo

15

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

language of work or name

0 references

publication date

1 May 2016

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

98

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

801-817

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Secondary findings and carrier test frequencies in a large multiethnic sample

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Guidelines for investigating causality of sequence variants in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Cancer genomics and inherited risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Realizing the promise of cancer predisposition genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Expanded carrier screening panels-does bigger mean better?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Interpreting secondary cardiac disease variants in an exome cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Association of a HOXB13 variant with breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Cancer treatment according to BRCA1 and BRCA2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Rare mutations in XRCC2 increase the risk of breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

Practical considerations in the clinical application of whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

29 September 2017

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Reporting genomic secondary findings: ACMG members weigh in.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

The usefulness of whole-exome sequencing in routine clinical practice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Clinical whole-exome sequencing: are we there yet?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863474

4 September 2018

Genetic/familial high-risk assessment: breast and ovarian, version 1.2014

1 reference

https://pubmed.ncbi.nlm.nih.gov/27153395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multigene panel testing: planning the next generation of research studies in clinical cancer genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/27153395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/27153395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic clinical genome and exome sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/27153395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2016.02.024

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36890898&oldid=2088290300"