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Article

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.

Breast cancer research and treatment - 1 Oct 2011

Brandão Rita Dias, van Roozendaal Kees, Tserpelis Demis, Gómez García Encarna, Blok Marinus J

Abstract excerpt

A subset of the unclassified variants (UVs) identified during genetic screening of BRCA1/2 genes may affect splicing. We assessed at RNA level the effect of four BRCA1 and ten BRCA2 UVs with a putative splice effect, as predicted in silico. The variants selected for this study were beyond the positions -1, -2 or +1, +2 from the exon, and were not previously described (n = 8) or their effect on splicing was not...

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Source

Identifiers

PMID: 21638052
DOI: 10.1007/s10549-011-1599-7

Genes

BRCA1
BRCA2

Variants

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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