Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

doi:10.1007/s10549-011-1674-0

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Article

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Breast cancer research and treatment - 1 Apr 2012

Thomassen Mads, Blanco Ana, Montagna Marco, Hansen Thomas V O, Pedersen Inge S, Gutiérrez-Enríquez Sara, Menéndez Mireia, Fachal Laura, Santamariña Marta, Steffensen Ane Y, Jønson Lars, Agata Simona, Whiley Phillip, Tognazzo Silvia, Tornero Eva, Jensen Uffe B, Balmaña Judith, Kruse Torben A, Goldgar David E, Lázaro Conxi, Diez Orland, Spurdle Amanda B, Vega Ana

Abstract excerpt

Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian cancer. A common problem in clinical genetic testing is interpretation of variants with unknown clinical significance. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium was initiated to evaluate and implement strategies to characterize the clinical significance of BRCA1 and BRCA2...

Topics

Adult
Aged
BRCA1 Protein
BRCA2 Protein
Base Sequence
Computer Simulation
Female
Genetic Association Studies
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Hereditary Breast and Ovarian Cancer Syndrome

Humans

Likelihood Functions

Middle Aged

Models, Genetic

Molecular Sequence Data

Multivariate Analysis

Mutation

Source

Open in PubMed

Identifiers

PMID: 21769658
DOI: 10.1007/s10549-011-1674-0

Genes

BRCA2
BRCA1

Variants

Provenance

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