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Article

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Human mutation - 1 Jan 2009

Caligo Maria Adelaide, Bonatti Fabrizia, Guidugli Lucia, Aretini Paolo, Galli Alvaro

Abstract excerpt

The BRCA1 tumor suppressor gene is found mutated in familial breast cancer. Although many of the mutations are clearly pathological because they give rise to truncated proteins, several missense variants of uncertain pathological consequences have been identified. A novel functional assay to scre...

Read the complete abstract on PubMed

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Share to BRCA1 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Models, Genetic

Share to Mutation, Missense

Share to Recombination, Genetic

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Source

Identifiers

PMID: 18680205
DOI: 10.1002/humu.20817

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18680205-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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