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Article

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

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Dec 2016

Balmaña Judith, Digiovanni Laura, Gaddam Pragna, Walsh Michael F, Joseph Vijai, Stadler Zsofia K, Nathanson Katherine L, Garber Judy E, Couch Fergus J, Offit Kenneth, Robson Mark E, Domchek Susan M

Abstract excerpt

Purpose Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. We describe conflicting variant interpretations between Clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27621404
DOI: 10.1200/JCO.2016.68.4316
PMCID: PMC5562435

Genes

ATM
BARD1
BRIP1
CHEK2
NBN
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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