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Article

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.

Breast cancer research : BCR - 1 Jan 2005

Wappenschmidt B, Fimmers R, Rhiem K, Brosig M, Wardelmann E, Meindl A, Arnold N, Mallmann P, Schmutzler R K

Abstract excerpt

INTRODUCTION: Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10). METHODS: For co-segregation, four women from a large kindred (BN326) suffering from breast cancer were analysed. Moreover, paraffin-embedded tumours from two patients were analysed...

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Source

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Identifiers

PMID: 16168123
DOI: 10.1186/bcr1291
PMCID: PMC1242149

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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