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Article

Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.

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

Fackenthal James D, Lee Younghee, Olopade Olufunmilayo I

Abstract excerpt

The first mutation that disrupts BRCA2 mRNA by including a novel, cryptic exon is reported in this issue. The mutation lies deep within an intron and would not have been detected by conventional screening methods. In the future, more mutations may be discovered by direct mRNA analysis.

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Source

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Identifiers

PMID: 22869870
DOI: 10.1158/1078-0432.CCR-12-2090
PMCID: PMC4536549

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22869870-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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