Výsledky vyhledávání - "Ana Isabel Sánchez-Bermúdez"

RAD51C and RAD51D in the hereditary breast and ovarian cancer syndrome

Autor: M.ª Desamparados Sarabia Meseguer, José Antonio Noguera Velasco, Ana Isabel Sánchez Bermúdez, Verónica Guardiola Castillo, Francisco Ruiz Espejo

Publikováno v: Revista de Medicina de Laboratorio.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e3df40c01ba2e56f6ef0b8639bf6267
https://doi.org/10.20960/revmedlab.00024

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New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

Autor: Verónica Castillo-Guardiola, José A. Noguera-Velasco, Miguel Marín-Vera, M Desamparados Sarabia-Meseguer, Francisco Ruiz-Espejo, Ana Isabel Sánchez-Bermúdez, José Luis Alonso-Romero

Publikováno v: Cancer Genetics. :1-4

Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::079e1b0886d132d598006fe3235dfe13
https://doi.org/10.1016/j.cancergen.2018.06.002

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Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)

Autor: José Luis Alonso-Romero, Verónica Guardiola-Castillo, Ángeles García-Aliaga, José A. Noguera-Velasco, Ma Desamparados Sarabia-Meseguer, Pilar Sánchez Henarejos, Ana Isabel Sánchez-Bermúdez, Francisco Ayala-de la Peña, José Antonio Macías-Cerrolaza, Miguel Marín-Vera, Francisco Ruiz-Espejo

Publikováno v: European Journal of Medical Genetics. 61:355-361

RAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a mutation analysis of these genes was performed on non BRCA1/2 families. RAD51C and RAD51D genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe77b8c68d452093b908a44843933519
https://doi.org/10.1016/j.ejmg.2018.01.015

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Evaluation of criteria for genetic study of hereditary breast and ovarian cancer BRCAX families by multigene panel testing

Autor: Á. García-Aliaga, José A. Noguera-Velasco, F. Ayala De La Peña, Á. Aliaga-Baño, P. Pascual-Gilabert, F. Ruiz-Espejo, M.D. Sarabia-Meseguer, J.A. Macías-Cerrolaza, Ana Isabel Sánchez-Bermúdez, M.Á. Moreno-Locubiche, V. Castillo-Guardiola, L. Rosado-Jiménez, M. Zafra-Poves

Publikováno v: Clinica Chimica Acta. 493:S576-S577

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ba64e3bfaad9c2bbbd13a12607907b1
https://doi.org/10.1016/j.cca.2019.03.1210

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Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers

Autor: Ana Isabel Sánchez Bermúdez, Xavier Gabaldó Barrios, Mª Rosario García Hernández, Enrique Martínez Barba, Francisco Ruiz Espejo, Mª de los Desamparados Sarabia Meseguer, José Antonio Noguera Velasco, Francisco Ayala de la Peña, Miguel Marín Vera, José Antonio Macías Cerrolaza, José Luis Alonso Romero, Ángeles Aliaga Baño, Marta Zafra Poves, Isabel Tovar Zapata, Pilar Sánchez Henarejos, Pedro Luis Martínez Hernández, Verónica Castillo Guardiola, Encarna Cuevas Tortosa

Publikováno v: Familial cancer. 16(4)

This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 19

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52581364579525bc8bf339bae188d70f
https://pubmed.ncbi.nlm.nih.gov/28477318

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Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry

Autor: Pilar Sánchez Henarejos, Xavier Gabaldó Barrios, Miguel Marín Vera, José Luis Alonso Romero, Francisco Ruiz Espejo, Ana Isabel Sánchez Bermúdez, Gema Marín Zafra, María Desamparados Sarabia Meseguer

Publikováno v: Familial Cancer. 13:431-435

Mutations in breast cancer susceptibility (BRCA) genes lead to defects in DNA repair processes resulting in elevated genome instability and predisposing to breast and ovarian cancer. We report a novel mutation (c.1918C>T) in the exon 11 of the BRCA1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fd199170ae24678d0df6dcb532db23
https://doi.org/10.1007/s10689-014-9708-5

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Familial pancreatic cancer associated to germline mutation of BRCA2

Autor: Ana Isabel Sánchez Bermúdez, Gema Marín Zafra, M. Desamparados Sarabia Meseguer

Publikováno v: Medicina Clínica (English Edition). 150:e19-e20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd41778d463a58294bd12986575a836f
https://doi.org/10.1016/j.medcle.2018.02.010

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Cáncer de páncreas familiar asociado a mutación en el gen BRCA2

Autor: Gema Marín Zafra, M.ª Desamparados Sarabia Meseguer, Ana Isabel Sánchez Bermúdez

Publikováno v: Medicina Clínica. 150:e19-e20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fd49d4e717dd2c76ff5b6232a33fc91
https://doi.org/10.1016/j.medcli.2017.09.022

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