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scopus(8)
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
ArticleAbstract: Classification of rare missense variants in disease susceptibility genes as neutral or disease-causiPalabras claves:BRCA1, classification model, Unclassified variantsAutores:Barroso A., Benitez J., De la Hoya M., Díez O., Honrado E., Milne R.L., Osorio A., Raquel Salazar-Lugo, Vega A.Fuentes:scopusBiogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
ArticleAbstract: An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observedPalabras claves:Autores:Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Gómez-Carballa A., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Pardo-Seco J., Rodríguez-Pazos L., Salas A., Ugalde-Noritz N., Vega A.Fuentes:scopusAnalysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
ArticleAbstract: We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of themPalabras claves:BRCA1, BRCA2, Breast cancer, hebkp_reditary, Cáncer, SpanishAutores: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.Fuentes:scopusA novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
ArticleAbstract: Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phePalabras claves:ABCA12 gene, Autosomal recessive congenital ichthyoses (ARCI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis (HI), lamellar ichthyosis (LI), splice-site pathogenic variantAutores:Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Rodríguez-Pazos L., Santomé L., Ugalde-Noritz N., Vega A.Fuentes:scopusGenomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
ArticleAbstract: Background: Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 diPalabras claves:Autores: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.Fuentes:scopusParity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
ArticleAbstract: Environmental or lifestyle factors are likely to explain part of the heterogeneity in breast and ovaPalabras claves:BRCA1, BRCA2, Breast Cancer, Ovarian Cancer, parityAutores:Baiget M., Balmaña J., Benitez J., Blanco A., Blanco I., Caldés T., Calvo M.T., Chirivella I., De la Hoya M., Díaz-Rubio E., Durán M., Esteban-Cardeñosa E., Guillén-Ponce C., Lasa A., Lázaro C., Martínez De Dueñas E., Milne R.L., Miramar M.D., Osorio A., Ramón Y Cajal T., Raquel Salazar-Lugo, San Román C., Sánchez-Ollé G., Tejada M.I., Teulé A., Urioste M., Vega A., Velasco E.Fuentes:scopusThe average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
ArticleAbstract: Purpose: It is not clear that the published estimates of the breast and ovarian cancer penetrances oPalabras claves:Autores:Antoniou A.C., Benitez J., Beristain E., Blanco A., Blanco I., Caldés T., Calvo M.T., Carmen Alonso M., Chirivella I., De la Hoya M., Díez O., Durán M., Esteban-Cardeñosa E., Graña B., Guillén-Ponce C., Lázaro C., Llort G., Martínez E., Milne R.L., Miramar M.D., Osorio A., Ramón Y Cajal T., Raquel Salazar-Lugo, Román C.S., Sánchez-de-Abajo A., Tejada M.I., Urioste M., Vega A., Velasco E.Fuentes:scopusThe variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
ArticleAbstract: Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized.Palabras claves:BRCA1/2, Breast Cancer, RAD51DAutores: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.Fuentes:scopus