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Article

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Genes, chromosomes & cancer - 1 Jul 2003

Claes Kathleen, Poppe Bruce, Machackova Eva, Coene Ilse, Foretova Lenka, De Paepe Anne, Messiaen Ludwine

Abstract excerpt

About 4% of all BRCA1 and BRCA2 alterations reported to the Breast Information Core database are splice site variants. Only a limited number of them have been studied at the RNA level. By BRCA1 and BRCA2 mutation analysis of breast/ovarian cancer families, we identified two novel and eight previously reported potential splice site mutations, never characterized at the cDNA level before. RT-PCR was performed to...

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Source

Identifiers

PMID: 12759930
DOI: 10.1002/gcc.10221

Genes

BRCA2
BRCA1

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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Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.PMID 12759930Read ↗

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