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Article

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Sept 2012

Anczuków Olga, Buisson Monique, Léoné Mélanie, Coutanson Christine, Lasset Christine, Calender Alain, Sinilnikova Olga M, Mazoyer Sylvie

Abstract excerpt

PURPOSE: Diagnostic screening of the BRCA1/2 genes in breast cancer families is mostly done on genomic DNA. For families with a very strong family history and no mutation identified in the coding sequences or the exon-intron boundaries, BRCA1/2 transcripts' analysis is an efficient approach to un...

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Source

Identifiers

PMID: 22753590
DOI: 10.1158/1078-0432.CCR-12-1100

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22753590-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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