Sfoglia Dpto. Bioquímica y Biología Molecular y Fisiología per Autore "Infante Sanz, María Del Mar"

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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Velázquez Pérez, Carolina; Lastra, Enrique; Avila Cobos, Francisco; Abella, Luis; de la Cruz, Virginia; Hernando, Blanca Ascensión; Hernández Sanz, Lara; Martínez Martín, Noemí; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes (2020)
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva; Lastra, Enrique; Abella, Luis E.; de la Cruz, Virginia; Domínguez Lobatón, María Carmen ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar (2019)
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Gutiérrez-Enríquez, Sara; Esteban Cardeñosa, Eva; Díaz Rubio, Eduardo; Hoya, Miguel de la; Gutiérrez Enríquez, Sara; Bonache, Sandra; Ruíz de Garibay, Gorka; Osorio, Ana; Santamariña, Marta; Ramón y Cajal, Teresa; Esteban Cardeñosa, Eva; Tenés, Anna; Yanowsky, Kira; Barroso, Alicia; Montalban, Gemma; Blanco, Eva; Cornet, Mònica; Gadea, Neus; Infante Sanz, María Del Mar ; Caldés, Trinidad; Díaz Rubio, Eduardo; Balmaña, Judith; Lasa, Adriana; Vega, Ana; Benítez, Javier; Hoya, Miguel de la; Diez, Orland (2014)
Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets

Perez, Laura; Saiz López, P.; Sánchez Escribano, R.; Rodrigo, A.; García González, M.; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar ; Terradez, A.; Faull, I.; Lastra, Enrique (2018)
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

de Juan, Inmaculada; Palanca, Sarai; Domenech, Asunción; Feliubadaló, Lidia; Segura, Ángel; Osorio, Ana; Chirivella, Isabel; de la Hoya, Miguel; Sánchez, Ana Beatriz; Infante Sanz, María Del Mar ; Tena, Isabel; Diez, Orland; Garcia-Casado, Zaida; Vega, Ana; Teulé, Àlex; Barroso, Alicia; Pérez, Pedro; Duran Dominguez, María Mercedes ; Carrasco, Estela; Juan-Fita, Mª José; Murria, Rosa; Llop, Marta; Barragan, Eva; Izquierdo, Ángel; Benítez, Javier; Caldés, Trinidad; Salas, Dolores; Bolufer, Pascual (2015)
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study

Montalban, Gemma; Fraile-Bethencourt, Eugenia; López-Perolio, Irene; Pérez-Segura, Pedro; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Diez, Orland; de la Hoya, Miguel; Velasco, Eladio A.; Gutiérrez-Enríquez, Sara (2018)
DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Osorio, Ana; Infante Sanz, María Del Mar (2014)
Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

Pérez-Cabornero, Lucia; Infante Sanz, María Del Mar ; Velasco, Eladio; Lastra, Enrique; Miner, Cristina; Duran Dominguez, María Mercedes (2013-05)
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Seguí, Nuria; Pineda, Marta; Navarro, Matilde; Lázaro, Conxi; Brunet, Joan; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Soto, José Luis; Blanco, Ignacio; Capellá, Gabriel; Valle, Laura (2014)
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

Tuazon, Anna Marie De Asis; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Estrada-Florez, Ana; Mateus, Gilbert; Velez, Alejandro; Carmona, Jenny; Olaya, Justo; Garcia, Elisha; Polanco-Echeverry, Guadalupe; Stultz, Jacob; Alvarez, Carolina; Tapia, Teresa; Ashton-Prolla, Patricia; Alemar, Barbara; Netto, Cristina Brinckmann Oliveira; Carraro, Dirce Maria; Vargas, Fernando Regla; da Silva, Gustavo Stumpf; Nascimento, Ivana Lúcia Oliveira; de Souza, Kelly Rose Lobo; Achatz, Maria Isabel; Moreira, Miguel Angelo Martins; Torrales, Maria Betânia; Pimenta, Maristela; Machado-Lopes, Taisa Manuela Bonfim; Vega, Ana; Lazaro, Conxi; Tornero, Eva; Martinez-Bouzas, Cristina; Infante Sanz, María Del Mar ; De La Hoya, Miguel; Diez, Orland; Browning, Brian L.; Bolaños, Fernando; Murillo, Raúl; Sánchez, Yesid; Sanabria, Carolina; Serrano, Martha Lucia; Suarez, John Jairo; Rannala, Bruce; Teixeira, Manuel R.; Carvallo, Pilar; Echeverry, Magdalena; Carvajal-Carmona, Luis G. (2020)
Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing?

Infante Sanz, María Del Mar ; Arranz Ledo, Mónica ; Lastra, Enrique; Abella, Luis Enrique; Ferreira, Raquel; Orozco, Marta; Hernández, Lara; Martínez Martín, Noemí; Duran Dominguez, María Mercedes (2022)
Multiomics insights on the onset, progression, and metastatic evolution of breast cancer

Álvarez Frutos, Lucia ; Barriuso Palacios, Daniel ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar ; Kroemer, Guido; Palacios Ramírez, Roberto ; Senovilla González, Laura (2023-12-19)
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Infante Sanz, María Del Mar ; Arranz Ledo, Mónica ; Lastra, Enrique; Olaverri, Amaya; Ferreira, Raquel; Orozco, Marta; Hernández Sanz, Lara; Martínez Martín, Noemí; Duran Dominguez, María Mercedes (2024)
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

Sanoguera Miralles, Lara; Valenzuela Palomo, Alberto; Bueno Martínez, Elena ; Esteban Sánchez, Ada; Lorca, Víctor; Llinares Burguet, Inés; García Álvarez, Alicia; Pérez Segura, Pedro; Infante Sanz, María Del Mar ; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco Sampedro, Eladio Andrés (2024)
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Acedo, Alberto; Sánchez Tapia, Eva María; Díez Gómez, Beatríz; Barroso, Alicia; García González, María; Feliubadalo, L.; Lasa, Adriana; Hoya, Miguel de la; Esteban Cardeñosa, Eva; Diez, Orland; Martinez Bouzas, Cristina; Godino, Javier; Teulé, Alexandra; Osorio, Ana; Lastra, Enrique; González Sarmiento, Rogelio; Miner, Cristina; Velasco, Eladio A. (2013)
Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva; Lastra, Enrique; Abella, Luis E.; de la Cruz, Virginia; Domínguez Lobatón, María Carmen ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar (2019-01)

Sfoglia Dpto. Bioquímica y Biología Molecular y Fisiología per Autore "Infante Sanz, María Del Mar" Google Citations

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection ﻿

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer ﻿

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants ﻿

Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets ﻿

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study ﻿

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study ﻿

DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers ﻿

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays ﻿

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X ﻿

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia ﻿

Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing? ﻿

Multiomics insights on the onset, progression, and metastatic evolution of breast cancer ﻿

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations ﻿

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants ﻿

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins ﻿

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer ﻿

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study

DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing?

Multiomics insights on the onset, progression, and metastatic evolution of breast cancer

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer