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DURAN DOMINGUEZ, MARIA MERCEDES

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camposKey:1661-6596 2022-10-01 Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=75197]], camposKey:0022-3417 2022-09-01 Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants83101, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=58436]], camposKey:1752-1947 2021-01-01 ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=59631]], camposKey:2045-2322 2021-01-01 Association of CNR1 and 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ifccomptador=58432]], camposKey:0008-5472 2012-04-15 An evaluation of the genes involved in the Base Excision Repair (BER) pathway as potential phenotypic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53947]], camposKey:1059-7794 2012-04-01 Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers690702, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53949]], camposKey:1055-9965 2012-01-01 Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers645657, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54745]], camposKey:1465-542X 2012-01-01 Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40420]], camposKey:1465-542X 2012-01-01 Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53938]], camposKey:1699-048X 2012-01-01 Lynch syndrome diagnostics:: decision-making process for germ-line testing254262, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=9204]], camposKey:1053-8569 2012-01-01 Weight Gain Associated with Antipsychotics in a Naturalistic Setting: Icaro Study443443, 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evaluation of PARP1 and other genes involved in the Base Excision Repair (BER) pathway as potential phenotypic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40428]], camposKey:0959-8049 2009-01-01 A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR14851493, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53958]], camposKey:1078-0432 2008-01-01 The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain28612869, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40406]], camposKey:1754-2189 2007-01-01 Heteroduplex analysis by capillary array electrophoresis for rapid 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com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53960]], camposKey:1018-4813 2003-01-01 Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations489492, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=49922]], camposKey:0025-7753 2002-01-01 Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): Identificación de nueve variantes de efecto desconocido no descritas441445, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53961]], camposKey:0302-4342 2001-01-01 Molecular diagnosis of fragile X syndrome by polymerase chain reaction: Application of a diagnostic protocol in 50 families from northern Spain Diagnóstico molecular por reacción en cadena de la polimerasa del síndrome X frágil: Aplicación de un protocolo diagnóstico en 50 familias del norte de España331339, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54682]], camposKey:1422-2795 1999-01-01 Screening for female fragile X premutation and full mutation carriers: A commentary on the work of Wildhagen et al.4950, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=53962]], camposKey:0022-2593 1998-01-01 Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country387390][CapitolsLlib{id=com.sigma.fs3.argos.domain.gpc.GpcCapitolsLlibPK[ifcactivitat=CAP, ifccomptador=20047]},camposKey: 975 981 Pasado, presente y futuro de la investigación y diagnóstico del síndrome X frágil en el norte de España 8481961906Investigación, innovación y cambio 1 2003-01-01 Amarú 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Artículos de revista (74)

Infante M.; Arranz-Ledo M.; Lastra E.; Olaverri A.; Ferreira R.; Orozco M.; Hernandez L.; Martinez N.; Duran M. Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations . CLINICA CHIMICA ACTA 2024; 552

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Tejada Mínguez, María Isabel; Durán Domínguez, M.; Puyo, C.; López Aristegui, Mª A.; Fernández Toral, Joaquín; Martínez Merino, T.; Poch Olivé, María Luisa; Valiente, A. Pasado, presente y futuro de la investigación y diagnóstico del síndrome X frágil en el norte de España. En: -. Investigación, innovación y cambio. Amarú 2003. p. 975-981


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Estrategias tempranas de detección de cáncer gástrico hereditario mediante análisis multigénico en secuenciación masiva.. Equipo Investigadores: ENRIQUE LASTRA ARAS (IP); INFANTE SANZ, MARIA DEL MAR; DURAN DOMINGUEZ, MARIA MERCEDES; MARIA GARCIA GONZALEZ. GRS/2351/A/2021. Entidades Participantes: HOSPITAL UNIVERSITARIO DE BURGOS, UNIVERSIDAD DE VALLADOLID (UVa). 01/01/2022-31/12/2022

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Convenios/Contratos OTC (12)

Genética molecular del cáncer hereditario.. Equipo Investigadores: DURAN DOMINGUEZ, MARIA MERCEDES (IP). Entidades Participantes: FUNDACION GENERAL DE LA UNIVERSIDAD DE VALLADOLID.. Entidades Financiadoras: FUNDACION UNIVERSIDAD DE VALLADOLID M.P.., ASOCIACION ONCÓLOGICA JUAN VICTOR., ACIDEOM., AYUNTAMIENTO DE ALCAZAREN.. 01/12/2021

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Otras ayudas y becas (3)

CONTRATO PREDOCTORAL JUNTA DE CASTILLA Y LEÓN DE MÓNICA ARRANZ LEDO: CARACTERIZACIÓN MOLECULAR DE CÁNCERES FAMILIARES DE ALTO RIESGO MEDIANTE EXOMA MULTIGÉNICO EN PLATAFORMA DE SECUENCIACIÓN MASIVA. DURAN DOMINGUEZ, MARIA MERCEDES (Director). ARRANZ LEDO, MONICA (Beneficiario). 20/01/2023 - 28/12/2026. 92.300,00 EUR.

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Congresos (2)

European Human Genetics Conference 2024, BERLIN ( ALEMANIA ) 01/06/2024 - 04/06/2024
(Póster). Mónica Arranz Ledo, Enrique Lastra Aras, Amaya Olaverri Hernández, Marta Orozco Belinchón, Enrique Pérez Riesgo, Lara Hernández Sanz, Noemy Martínez Martín, Mar Infante, Mercedes Durán. Retrospective study of non-informative BRCA1/2 families using NGS. The path towards preventive and personalized medicine
(Póster). Noemí Martínez Martín, Lara Hernández Sanz, Mónica Arranz Ledo, Enrique Lastra Aras, Mª del Mar Infante Sanz y Mercedes Durán Domínguez. Análisis de metilación del promotor del gen MLH1, en ADN de tumores con Inmunohistoquímica MLH1¿PMS2 deficiente, mediante MS¿MLPA
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¿The Genetic Room¿. Un Escape Room para mejorar el aprendizaje en diagnóstico genético humano. - PID2023/4. Universidad de Valladolid. 01/09/2023.
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