Works by Gutiérrez-Enríquez, Sara

Results: 41

External Validation of a Predictive Model for Acute Skin Radiation Toxicity in the REQUITE Breast Cohort.

Published in:

Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.575909

By:

Rattay, Tim;
Seibold, Petra;
Aguado-Barrera, Miguel E.;
Altabas, Manuel;
Azria, David;
Barnett, Gillian C.;
Bultijnck, Renée;
Chang-Claude, Jenny;
Choudhury, Ananya;
Coles, Charlotte E.;
Dunning, Alison M.;
Elliott, Rebecca M.;
Farcy Jacquet, Marie-Pierre;
Gutiérrez-Enríquez, Sara;
Johnson, Kerstie;
Müller, Anusha;
Post, Giselle;
Rancati, Tiziana;
Reyes, Victoria;
Rosenstein, Barry S.

Publication type:

Article

Clinical consequences of BRCA2 hypomorphism.

Published in:

NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00322-9

By:

Castells-Roca, Laia;
Gutiérrez-Enríquez, Sara;
Bonache, Sandra;
Bogliolo, Massimo;
Carrasco, Estela;
Aza-Carmona, Miriam;
Montalban, Gemma;
Muñoz-Subirana, Núria;
Pujol, Roser;
Cruz, Cristina;
Llop-Guevara, Alba;
Ramírez, María J.;
Saura, Cristina;
Lasa, Adriana;
Serra, Violeta;
Diez, Orland;
Balmaña, Judith;
Surrallés, Jordi

Publication type:

Article

Association of radiation-induced normal tissue toxicity with a high genetic risk for rheumatoid arthritis.

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 1018, doi. 10.1093/jnci/djae349

By:

McWilliam, Alan;
Marshall, Deborah;
Kerns, Sarah L;
Barnett, Gillian C;
Vega, Ana;
Kapouranis, Thodori;
Barrera, Miguel E Aguado;
Avuzzi, Barbara;
Azria, David;
Chang-Claude, Jenny;
Choudhury, Ananya;
Costa, Carla Coedo;
Dunning, Alison;
Farcy-Jacquet, Marie-Pierre;
Faivre-Finn, Corinne;
Gutiérrez-Enríquez, Sara;
Fuentes-Ríos, Olivia;
Caamaño, Antonio Gómez;
Lambrecht, Maarten;
Pleguezuelos, Carlos López

Publication type:

Article

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Published in:

Breast Cancer Research & Treatment, 2014, v. 147, n. 1, p. 133, doi. 10.1007/s10549-014-3078-4

By:

Blanco, Ana;
Gutiérrez-Enríquez, Sara;
Santamariña, Marta;
Montalban, Gemma;
Bonache, Sandra;
Balmaña, Judith;
Carracedo, Ángel;
Diez, Orland;
Vega, Ana

Publication type:

Article

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.

Published in:

Breast Cancer Research & Treatment, 2012, v. 133, n. 1, p. 273, doi. 10.1007/s10549-011-1909-0

By:

Ruiz de Garibay, Gorka;
Gutiérrez-Enríquez, Sara;
Garre, Pilar;
Bonache, Sandra;
Romero, Atocha;
Palomo, Laura;
Sánchez de Abajo, Ana;
Benítez, Javier;
Balmaña, Judith;
Pérez-Segura, Pedro;
Díaz-Rubio, Eduardo;
Díez, Orland;
Caldés, Trinidad;
Hoya, Miguel

Publication type:

Article

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Published in:

Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1009, doi. 10.1007/s10549-011-1674-0

By:

Thomassen, Mads;
Blanco, Ana;
Montagna, Marco;
Hansen, Thomas;
Pedersen, Inge;
Gutiérrez-Enríquez, Sara;
Menéndez, Mireia;
Fachal, Laura;
Santamariña, Marta;
Steffensen, Ane;
Jønson, Lars;
Agata, Simona;
Whiley, Phillip;
Tognazzo, Silvia;
Tornero, Eva;
Jensen, Uffe;
Balmaña, Judith;
Kruse, Torben;
Goldgar, David;
Lázaro, Conxi

Publication type:

Article

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.

Published in:

Breast Cancer Research & Treatment, 2011, v. 127, n. 3, p. 611, doi. 10.1007/s10549-010-1017-6

By:

Gutiérrez-Enríquez, Sara;
Ramón y Cajal, Teresa;
Alonso, Carmen;
Corral, Anna;
Carrasco, Pablo;
Cornet, Mónica;
Sanz, Judith;
Ribas, Montserrat;
Baiget, Montserrat;
Diez, Orland

Publication type:

Article

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

Published in:

2010

By:

Diez, Orland;
Gutiérrez-Enríquez, Sara;
Masas, Miriam;
Tenés, Anna;
Yagüe, Carme;
Arcusa, Angels;
Llort, Gemma

Publication type:

Report

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

Published in:

2010

By:

Diez, Orland;
Gutiérrez-Enríquez, Sara;
Mediano, Carmen;
Masas, Miriam;
Saura, Cristina;
Gadea, Neus;
Balmaña, Judith

Publication type:

Report

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

Published in:

2009

By:

Gutiérrez-Enríquez, Sara;
Coderch, Verònica;
Masas, Miriam;
Balmaña, Judith;
Diez, Orland

Publication type:

Report

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Published in:

Breast Cancer Research & Treatment, 2007, v. 103, n. 1, p. 103, doi. 10.1007/s10549-006-9376-8

By:

Gutiérrez-Enríquez, Sara;
de la Hoya, Miguel;
Martínez-Bouzas, Cristina;
de Abajo, Ana;
Cajal, Teresa;
Llort, Gemma;
Blanco, Ignacio;
Beristain, Elena;
Díaz-Rubio, Eduardo;
Alonso, Carmen;
Tejada, María-Isabel;
Caldés, Trinidad;
Diez, Orland

Publication type:

Article

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Published in:

Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 12, p. 2495, doi. 10.1007/s00432-018-2763-9

By:

Bonache, Sandra;
Esteban, Irene;
Moles-Fernández, Alejandro;
Tenés, Anna;
Duran-Lozano, Laura;
Montalban, Gemma;
Bach, Vanessa;
Carrasco, Estela;
Gadea, Neus;
López-Fernández, Adrià;
Torres-Esquius, Sara;
Mancuso, Francesco;
Caratú, Ginevra;
Vivancos, Ana;
Tuset, Noemí;
Balmaña, Judith;
Gutiérrez-Enríquez, Sara;
Diez, Orland

Publication type:

Article

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.

Published in:

EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809172

By:

Castroviejo‐Bermejo, Marta;
Cruz, Cristina;
Llop‐Guevara, Alba;
Gutiérrez‐Enríquez, Sara;
Ducy, Mandy;
Ibrahim, Yasir Hussein;
Gris‐Oliver, Albert;
Pellegrino, Benedetta;
Bruna, Alejandra;
Guzmán, Marta;
Rodríguez, Olga;
Grueso, Judit;
Bonache, Sandra;
Moles‐Fernández, Alejandro;
Villacampa, Guillermo;
Viaplana, Cristina;
Gómez, Patricia;
Vidal, Marc;
Peg, Vicente;
Serres‐Créixams, Xavier

Publication type:

Article

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

Published in:

Genes, Chromosomes & Cancer, 2004, v. 40, n. 2, p. 109

By:

Sara Gutiérrez-Enríquez;
Marie Fernet;
Thilo Dörk;
Michael Bremer;
Anthony Lauge;
Dominique Stoppa-Lyonnet;
Norman Moullan;
Sandra Angèle;
Janet Hall

Publication type:

Article

Cell Senescence-Related Pathways Are Enriched in Breast Cancer Patients With Late Toxicity After Radiotherapy and Low Radiation-Induced Lymphocyte Apoptosis.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.825703

By:

Aguado-Flor, Ester;
Fuentes-Raspall, María J.;
Gonzalo, Ricardo;
Alonso, Carmen;
Ramón y Cajal, Teresa;
Fisas, David;
Seoane, Alejandro;
Sánchez-Pla, Álex;
Giralt, Jordi;
Díez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.

Published in:

International Journal of Cancer, 2019, v. 145, n. 10, p. 2682, doi. 10.1002/ijc.32304

By:

Feliubadaló, Lídia;
López‐Fernández, Adrià;
Pineda, Marta;
Díez, Orland;
Valle, Jesús;
Gutiérrez‐Enríquez, Sara;
Teulé, Alex;
González, Sara;
Stjepanovic, Neda;
Salinas, Mónica;
Capellá, Gabriel;
Brunet, Joan;
Lázaro, Conxi;
Balmaña, Judith;
Campos, Olga;
Carrasco, Estela;
Cuesta, Raquel;
Darder, Esther;
Gadea, Neus;
Gómez, Carolina

Publication type:

Article

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

Published in:

International Journal of Cancer, 2019, v. 145, n. 2, p. 401, doi. 10.1002/ijc.32114

By:

Brandão, Rita D.;
Mensaert, Klaas;
López‐Perolio, Irene;
Tserpelis, Demis;
Xenakis, Markos;
Lattimore, Vanessa;
Walker, Logan C.;
Kvist, Anders;
Vega, Ana;
Gutiérrez‐Enríquez, Sara;
Díez, Orland;
Hoya, Miguel;
Spurdle, Amanda B.;
De Meyer, Tim;
Blok, Marinus J.

Publication type:

Article

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

Published in:

International Journal of Cancer, 2014, v. 134, n. 9, p. 2088, doi. 10.1002/ijc.28540

By:

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, Ana;
Cornet, Mònica;
Gadea, Neus;
Infante, Mar;
Caldés, Trinidad;
Díaz‐Rubio, Eduardo;
Balmaña, Judith;
Lasa, Adriana;
Vega, Ana

Publication type:

Article

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Published in:

Clinical Chemistry, 2021, v. 67, n. 3, p. 518, doi. 10.1093/clinchem/hvaa250

By:

Feliubadaló, Lidia;
Moles-Fernández, Alejandro;
Santamariña-Pena, Marta;
T. Sánchez, Alysson;
López-Novo, Anael;
Porras, Luz-Marina;
Blanco, Ana;
Capellá, Gabriel;
de la Hoya, Miguel;
Molina, Ignacio J.;
Osorio, Ana;
Pineda, Marta;
Rueda, Daniel;
de la Cruz, Xavier;
Diez, Orland;
Ruiz-Ponte, Clara;
Gutiérrez-Enríquez, Sara;
Vega, Ana;
Lázaro, Conxi

Publication type:

Article

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.

Published in:

Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658

By:

Whiley, Phillip J.;
de la Hoya, Miguel;
Thomassen, Mads;
Becker, Alexandra;
Brandão, Rita;
Pedersen, Inge Sokilde;
Montagna, Marco;
Menéndez, Mireia;
Quiles, Francisco;
Gutiérrez-Enríquez, Sara;
De Leeneer, Kim;
Tenés, Anna;
Montalban, Gemma;
Tserpelis, Demis;
Toshio Yoshimatsu;
Tirapo, Carole;
Raponi, Michela;
Caldes, Trinidad;
Blanco, Ana;
Santamariña, Marta

Publication type:

Article

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Published in:

Familial Cancer, 2010, v. 9, n. 2, p. 187, doi. 10.1007/s10689-009-9301-5

By:

Diez, Orland;
Gutiérrez-Enríquez, Sara;
Balmaña, Judith

Publication type:

Article

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism.

Published in:

Apoptosis, 2015, v. 20, n. 3, p. 371, doi. 10.1007/s10495-014-1056-2

By:

Fuentes-Raspall, María;
Caragol, Isabel;
Alonso, Carmen;
Ramón y Cajal, Teresa;
Fisas, David;
Seoane, Alejandro;
Carvajal, Nerea;
Bonache, Sandra;
Díez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

Published in:

JAMA Network Open, 2024, v. 7, n. 1, p. e247811, doi. 10.1001/jamanetworkopen.2024.7811

By:

Torres-Esquius, Sara;
Llop-Guevara, Alba;
Gutiérrez-Enríquez, Sara;
Romey, Marcel;
Teulé, Àlex;
Llort, Gemma;
Herrero, Ana;
Sánchez-Henarejos, Pilar;
Vallmajó, Anna;
González-Santiago, Santiago;
Chirivella, Isabel;
Cano, Juana Maria;
Graña, Begoña;
Simonetti, Sara;
Díaz de Corcuera, Isabela;
Ramon y Cajal, Teresa;
Sanz, Judit;
Serrano, Sara;
Otero, Andrea;
Churruca, Cristina

Publication type:

Article

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03433-3

By:

Hernández, Gonzalo;
Ramírez, María José;
Minguillón, Jordi;
Quiles, Paco;
de Garibay, Gorka Ruiz;
Aza-Carmona, Miriam;
Bogliolo, Massimo;
Pujol, Roser;
Prados-Carvajal, Rosario;
Fernández, Juana;
García, Nadia;
López, Adrià;
Gutiérrez-Enríquez, Sara;
Diez, Orland;
Benítez, Javier;
Salinas, Mónica;
Teulé, Alex;
Brunet, Joan;
Radice, Paolo;
Peterlongo, Paolo

Publication type:

Article

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Published in:

Cancers, 2021, v. 13, n. 13, p. 3341, doi. 10.3390/cancers13133341

By:

Moles-Fernández, Alejandro;
Domènech-Vivó, Joanna;
Tenés, Anna;
Balmaña, Judith;
Diez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

Reply to: Comments on "(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer".

Published in:

International Journal of Cancer, 2024, v. 154, n. 4, p. 759, doi. 10.1002/ijc.34772

By:

Rosas, Juan C.;
Aguado‐Barrera, Miguel E.;
Azria, David;
Briers, Erik;
Elliott, Rebecca;
Farcy‐Jacquet, Marie‐Pierre;
Giraldo, Alexandra;
Gutiérrez‐Enríquez, Sara;
Rancati, Tiziana;
Rattay, Tim;
Reyes, Victoria;
Rosenstein, Barry;
De Ruysscher, Dirk;
Sperk, Elena;
Stobart, Hilary;
Talbot, Christopher;
Vega, Ana;
Taboada‐Valladares, Begoña;
Veldeman, Liv;
Ward, Tim

Publication type:

Article

(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer.

Published in:

International Journal of Cancer, 2023, v. 153, n. 9, p. 1579, doi. 10.1002/ijc.34640

By:

Rosas, Juan C.;
Aguado‐Barrera, Miguel E.;
Azria, David;
Briers, Erik;
Elliott, Rebecca;
Farcy‐Jacquet, Marie‐Pierre;
Giraldo, Alexandra;
Gutiérrez‐Enríquez, Sara;
Rancati, Tiziana;
Rattay, Tim;
Reyes, Victoria;
Rosenstein, Barry;
De Ruysscher, Dirk;
Sperk, Elena;
Stobart, Hilary;
Talbot, Christopher;
Vega, Ana;
Taboada‐Valladares, Begoña;
Veldeman, Liv;
Ward, Tim

Publication type:

Article

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067538

By:

Blanco, Ana;
de la Hoya, Miguel;
Osorio, Ana;
Diez, Orland;
Miramar, María Dolores;
Infante, Mar;
Martinez-Bouzas, Cristina;
Torres, Asunción;
Lasa, Adriana;
Llort, Gemma;
Brunet, Joan;
Graña, Begoña;
Perez Segura, Pedro;
Garcia, María José;
Gutiérrez-Enríquez, Sara;
Carracedo, Ángel;
Tejada, María-Isabel;
Velasco, Eladio A.;
Calvo, María-Teresa;
Balmaña, Judith

Publication type:

Article

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Published in:

Breast Cancer Research & Treatment, 2019, v. 174, n. 2, p. 543, doi. 10.1007/s10549-018-05094-8

By:

Duran-Lozano, Laura;
Montalban, Gemma;
Bonache, Sandra;
Moles-Fernández, Alejandro;
Tenés, Anna;
Castroviejo-Bermejo, Marta;
Carrasco, Estela;
López-Fernández, Adrià;
Torres-Esquius, Sara;
Gadea, Neus;
Stjepanovic, Neda;
Balmaña, Judith;
Gutiérrez-Enríquez, Sara;
Diez, Orland

Publication type:

Article

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Published in:

NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00255-3

By:

Li, Na;
Zethoven, Magnus;
McInerny, Simone;
Devereux, Lisa;
Huang, Yu-Kuan;
Thio, Niko;
Cheasley, Dane;
Gutiérrez-Enríquez, Sara;
Moles-Fernández, Alejandro;
Diez, Orland;
Nguyen-Dumont, Tu;
Southey, Melissa C.;
Hopper, John L.;
Simard, Jacques;
Dumont, Martine;
Soucy, Penny;
Meindl, Alfons;
Schmutzler, Rita;
Schmidt, Marjanka K.;
Adank, Muriel A.

Publication type:

Article

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2296, doi. 10.1002/humu.23882

By:

Montalban, Gemma;
Bonache, Sandra;
Moles‐Fernández, Alejandro;
Gadea, Neus;
Tenés, Anna;
Torres‐Esquius, Sara;
Carrasco, Estela;
Balmaña, Judith;
Diez, Orland;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Front Cover, Volume 40, Issue 9.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. i, doi. 10.1002/humu.23908

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1546, doi. 10.1002/humu.23861

By:

Cline, Melissa S.;
Babbi, Giulia;
Bonache, Sandra;
Cao, Yue;
Casadio, Rita;
Cruz, Xavier;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
Katsonis, Panagiotis;
Lai, Carmen;
Lichtarge, Olivier;
Martelli, Pier L.;
Mishne, Gilad;
Moles‐Fernández, Alejandro;
Montalban, Gemma;
Mooney, Sean D.;
O'Conner, Robert;
Ootes, Lars;
Özkan, Selen;
Padilla, Natalia

Publication type:

Article

BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1593, doi. 10.1002/humu.23802

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2025, doi. 10.1002/humu.23652

By:

Burke, Leslie J.;
Sevcik, Jan;
Gambino, Gaetana;
Tudini, Emma;
Mucaki, Eliseos J.;
Shirley, Ben C.;
Whiley, Phillip;
Parsons, Michael T.;
Leeneer, Kim;
Gutiérrez‐Enríquez, Sara;
Santamariña, Marta;
Caputo, Sandrine M.;
Santana dos Santos, Elizabeth;
Soukupova, Jana;
Janatova, Marketa;
Zemankova, Petra;
Lhotova, Klara;
Stolarova, Lenka;
Borecka, Mariana;
Moles‐Fernández, Alejandro

Publication type:

Article

Back Cover, Volume 39, Issue 9.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. ii, doi. 10.1002/humu.23618

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1155, doi. 10.1002/humu.23583

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 53, doi. 10.1002/humu.22456

By:

Garibay, Gorka Ruiz;
Acedo, Alberto;
García‐Casado, Zaida;
Gutiérrez‐Enríquez, Sara;
Tosar, Alicia;
Romero, Atocha;
Garre, Pilar;
Llort, Gemma;
Thomassen, Mads;
Díez, Orland;
Pérez‐Segura, Pedro;
Díaz‐Rubio, Eduardo;
Velasco, Eladio A.;
Caldés, Trinidad;
Hoya, Miguel

Publication type:

Article

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366

By:

Moles-Fernández, Alejandro;
Duran-Lozano, Laura;
Montalban, Gemma;
Bonache, Sandra;
López-Perolio, Irene;
Menéndez, Mireia;
Santamariña, Marta;
Behar, Raquel;
Blanco, Ana;
Carrasco, Estela;
López-Fernández, Adrià;
Stjepanovic, Neda;
Balmaña, Judith;
Capellá, Gabriel;
Pineda, Marta;
Vega, Ana;
Lázaro, Conxi;
de la Hoya, Miguel;
Diez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

Published in:

Oncogene, 2004, v. 23, n. 10, p. 1954, doi. 10.1038/sj.onc.1207305

By:

Gemignani, Federica;
Moreno, Victor;
Landi, Stefano;
Moullan, Norman;
Chabrier, Amélie;
Gutiérrez-Enríquez, Sara;
Hall, Janet;
Guino, Elisabeth;
Peinado, Miguel Angel;
Capella, Gabriel;
Canzian, Federico

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article