Documentos de Carracedo Á. | REDI

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Mostrando 4 resultados de: 4

Filtros aplicados

Área temáticas: "Enfermedades"

Subtipo de publicación

Publisher

Clinical Chemistry(1)

Human Mutation(1)

International Journal of Cancer(1)

Pharmacogenomics Journal(1)

Área temáticas

Anatomía humana, citología, histología(1)

Farmacología y terapéutica(1)

Ginecología, obstetricia, pediatría, geriatría(1)

Área de conocimiento

Año de Publicación

Origen

Palabras Claves

Breast Cancer(1)

Breast cancer, hebkp_reditary(1)

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

Abstract: We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them

Palabras claves:

BRCA1, BRCA2, Breast cancer, hebkp_reditary, Cáncer, Spanish

Alonso C., Armengod M.E., Baiget M., Benitez J., Caldés T., Campos B., Carracedo Á., Cervantes A., Chaves J., Cruz-Hernandez J.J., De la Hoya M., Díaz-Rubio E., Díez O., Durán M., Esteban E., González-Sarmiento R., Martinez-Ferrandis J.I., Miner C., Osorio A., Raquel Salazar-Lugo, Rodríguez-López R., San Román J.M., Torres M., Vega A., Velasco E.

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

Abstract: Background: Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 di

Palabras claves:

Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díaz-Rubio E., Díez O., Esteban E., González-Sarmiento R., Gutiérrez-Enríquez S., Llort G., Miner C., Osorio A., Raquel Salazar-Lugo, Sánchez-de-Abajo A., Vega A., Velasco E.

High frequency and founder effect of the CYP3A4∗20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme

Abstract: Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been

Palabras claves:

Adrián LLerena, Apellániz-Ruiz M., Carracedo Á., Cascón A., Comino-Méndez I., Currás-Freixes M., De Cubas A.A., Grazina M., Ingelman-Sundberg M., Inglada-Pérez L., Mancikova V., Moya G.E., Naranjo M.E.G., Opocher G., Rasool M., Rebai A., Robledo M., Rodríguez-Antona C., Sánchez L., Taboada-Echalar P., Triki S.

The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

Abstract: Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized.

Palabras claves:

BRCA1/2, Breast Cancer, RAD51D

Alonso C., Arias J.I., Armengod M.E., Azcorra M.U., Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díez O., Esteban-Cardeñosa E., González-Sarmiento R., Letón R., Martínez J.I., Miner C., Osorio A., Pollán M., Raquel Salazar-Lugo, Ribas G., Rodríguez-López R., Ruibal A., Sánchez-Pulido L., Vega A., Zamora P.