Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories (Q88695701)

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26 March 2020

title

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories (English)

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26 March 2020

author name string

Stephen E Lincoln

1

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26 March 2020

Shan Yang

2

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26 March 2020

Melissa S Cline

3

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26 March 2020

Yuya Kobayashi

4

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26 March 2020

Can Zhang

5

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26 March 2020

Scott Topper

6

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26 March 2020

David Haussler

7

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26 March 2020

Benedict Paten

8

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Robert L Nussbaum

9

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26 March 2020

publication date

11 April 2017

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26 March 2020

volume

1

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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

26 March 2020

cites work

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Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

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12 December 2020

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

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12 December 2020

Variability in Pathologists' Interpretations of Individual Breast Biopsy Slides: A Population Perspective

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12 December 2020

Distributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering them

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12 December 2020

When is a mutation not a mutation: the case of the c.863-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

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12 December 2020

Diagnostic concordance among pathologists interpreting breast biopsy specimens

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12 December 2020

Variation in Mammographic Breast Density Assessments Among Radiologists in Clinical Practice: A Multicenter Observational Study.

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12 December 2020

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12 December 2020

Inherited susceptibility to common cancers

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12 December 2020

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions

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12 December 2020

The breast cancer information core: database design, structure, and scope

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12 December 2020

Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

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12 December 2020

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

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12 December 2020

General mutation databases: analysis and review

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12 December 2020

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

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1200/PO.16.00020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28782058 AND SRC:MED&resulttype=core&format=json

26 March 2020

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26 March 2020

PubMed publication ID

28782058

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