Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer | Zendy

Miguel de la Hoya | Zendy; Sara GutiérrezEnríquez | Zendy; Eladio A. Velasco | Zendy; Ana Osório | Zendy; Ana Sánchez de Abajo | Zendy; Ana Vega | Zendy; Raquel Salazar-Lugo | Zendy; Eva Esteban | Zendy; Gemma Llort | Zendy; Rogelio GonzálezSarmiento | Zendy; Ãngel Carracedo | Zendy; Javier Benı́tez | Zendy; Cristina Miner | Zendy; Orland Dı́ez | Zendy; Eduardo DíazRubio | Zendy; Trinidad Caldés | Zendy

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Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer

Author(s) -

Miguel de la Hoya,

Sara GutiérrezEnríquez,

Eladio A. Velasco,

Ana Osório,

Ana Sánchez de Abajo,

Ana Vega,

Raquel Salazar-Lugo,

Eva Esteban,

Gemma Llort,

Rogelio GonzálezSarmiento,

Ãngel Carracedo,

Javier Benı́tez,

Cristina Miner,

Orland Dı́ez,

Eduardo DíazRubio,

Trinidad Caldés

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2006.070110

Subject(s) - multiplex ligation dependent probe amplification , exon , biology , genetics , population , gene duplication , dup , comparative genomic hybridization , gene , medicine , genome , environmental health

Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 disease-causing changes, or variations, identified in families with hereditary breast/ovarian cancer [HB(O)C]. Great differences in the spectrum and prevalence of BRCA1 LGR have been observed among populations. Here we report the first comprehensive analysis of BRCA1 LGRs conducted in Spain.

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