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Article

The Icelandic founder mutation BRCA2 999del5: analysis of expression.

Breast cancer research : BCR - 1 Jan 2004

Mikaelsdottir Evgenia K, Valgeirsdottir Sigridur, Eyfjord Jorunn E, Rafnar Thorunn

Abstract excerpt

INTRODUCTION: A founder mutation in the BRCA2 gene (BRCA2 999del5) accounts for 7-8% of female breast cancers and for 40% of male breast cancers in Iceland. If expressed, the mutant gene would encode a protein consisting of the first 256 amino acids of the BRCA2 protein. The purpose of this study was to determine whether this mutant protein is produced in heterozygous individuals and, if so, what might be the...

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Source

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Identifiers

PMID: 15217494
DOI: 10.1186/bcr785
PMCID: PMC468616

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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The Icelandic founder mutation BRCA2 999del5: analysis of expression.PMID 15217494Read ↗

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