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Article

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

Human mutation - 1 Nov 2008

Plon Sharon E, Eccles Diana M, Easton Douglas, Foulkes William D, Genuardi Maurizio, Greenblatt Marc S, Hogervorst Frans B L, Hoogerbrugge Nicoline, Spurdle Amanda B, Tavtigian Sean V

Abstract excerpt

Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk of developing cancer. In general, sequence-based testing of germline DNA is used to determine whether an individual carries a change that is clearly likely to disrupt normal gene function. Genetic testing may detect changes that are clearly pathogenic, clearly neutral, or variants of unclear clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18951446
DOI: 10.1002/humu.20880
PMCID: PMC3075918

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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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