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Article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Human mutation - 1 Nov 2008

Greenblatt Marc S, Brody Lawrence C, Foulkes William D, Genuardi Maurizio, Hofstra Robert M W, Olivier Magali, Plon Sharon E, Sijmons Rolf H, Sinilnikova Olga, Spurdle Amanda B

Abstract excerpt

Locus-specific databases (LSDBs) are curated collections of sequence variants in genes associated with disease. LSDBs of cancer-related genes often serve as a critical resource to researchers, diagnostic laboratories, clinicians, and others in the cancer genetics community. LSDBs are poised to play an important role in disseminating clinical classification of variants. The IARC Working Group on Unclassified...

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Identifiers

PMID: 18951438
DOI: 10.1002/humu.20889
PMCID: PMC3446852

Genes

BRCA1
BRCA2
MLH1
MSH2

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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