A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

doi:10.1158/1078-0432.CCR-09-2564

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Article

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Mar 2010

Sanz David J, Acedo Alberto, Infante Mar, Durán Mercedes, Pérez-Cabornero Lucía, Esteban-Cardeñosa Eva, Lastra Enrique, Pagani Franco, Miner Cristina, Velasco Eladio A

Abstract excerpt

PURPOSE: Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process. We have investigated the effect of aberrant splicing of BRCA1/2 on hereditary breast/ovarian cancer (HBOC). EXPERIMENTAL DESIGN: DNA variants were analyzed with splicing prediction programs to select putative splicing...

Topics

Age of Onset
Alternative Splicing
BRCA1 Protein
BRCA2 Protein
Breast Neoplasms
DNA Primers
DNA, Neoplasm
Female
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Humans

Lymphocytes

Mutagenesis, Site-Directed

Mutation

Ovarian Neoplasms

Phenotype

Polymerase Chain Reaction

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 20215541
DOI: 10.1158/1078-0432.CCR-09-2564

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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