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Article

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Breast cancer research : BCR - 1 Jan 2007

Lovelock Paul K, Spurdle Amanda B, Mok Myth T S, Farrugia Daniel J, Lakhani Sunil R, Healey Sue, Arnold Stephen, Buchanan Daniel, Couch Fergus J, Henderson Beric R, Goldgar David E, Tavtigian Sean V, Chenevix-Trench Georgia, Brown Melissa A

Abstract excerpt

INTRODUCTION: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional approaches have been proposed as a means to elucidate likely clinical sig...

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Identifiers

PMID: 18036263
DOI: 10.1186/bcr1826
PMCID: PMC2246181

Genes

BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18036263-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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