vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

Bioinformatics

Munté, E; Feliubadaló, L; Pineda, M; Tornero, E; Gonzalez, M; Moreno-Cabrera, J M; Roca, C; Rubio, J; Arnaldo, L; Capellá, G; Mosquera, J L; Lázaro, C

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

iScience

Magallón-Lorenz, M; Terribas, E; Ortega-Bertran, S; Creus-Bachiller, E; Fernández, M; Requena, G; Rosas, I; Mazuelas, H; Uriarte-Arrazola, I; Negro, A; Lausová, T; Castellanos, E; Blanco, I; DeVries, G; Kawashima, H; Legius, E; Brems, H; Mautner, V; Kluwe, L; Ratner, N; Wallace, M; Fernández-Rodriguez, J; Lázaro, C; Fletcher, J A; Reuss, D; Carrió, M; Gel, B; Serra, E

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

eClinicalMedicine

Carton, C; Evans, D G; Blanco, I; Friedrich, R E; Ferner, R E; Farschtschi, S; Salvador, H; Azizi, A A; Mautner, V; Röhl, C; Peltonen, S; Stivaros, S; Legius, E; Oostenbrink, R; Brunet, J; Calenbergh, F; Cassiman, C; Czech, T; León, M J; Giele, H; Henley, S; Lazaro, C; Lipkovskaya, V; Maher, E R; Martin, V; Mathijssen, I; Opocher, E; Pires, A E; Pletschko, T; Poupaki, E; Ridola, V; Rietman, A; Rosenbaum, T; Santhouse, A; Sehested, A; Simmons, I; Taal, W; Wagner, A

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

The Lancet Oncology

Garcia-Pelaez, J; Barbosa-Matos, R; Lobo, S; Dias, A; Garrido, L; Castedo, S; Sousa, S; Pinheiro, H; Sousa, L; Monteiro, R; Maqueda, J J; Fernandes, S; Carneiro, F; Pinto, N; Lemos, C; Pinto, C; Teixeira, M R; Aretz, S; Bajalica-Lagercrantz, S; Balmaña, J; Blatnik, A; Benusiglio, P R; Blanluet, M; Bours, V; Brems, H; Brunet, J; Calistri, D; Capellá, G; Carrera, S; Colas, C; Dahan, K; Putter, R; Desseignés, C; Domínguez-Garrido, E; Egas, C; Evans, D G; Feret, D; Fewings, E; Fitzgerald, R C; Coulet, F; Garcia-Barcina, M; Genuardi, M; Golmard, L; Hackmann, K; Hanson, H; Holinski-Feder, E; Hüneburg, R; Krajc, M; Lagerstedt-Robinson, K; Lázaro, C; Ligtenberg, M J L; Martínez-Bouzas, C; Merino, S; Michils, G; Novaković, S; Patiño-García, A; Ranzani, G N; Schröck, E; Silva, I; Silveira, C; Soto, J L; Spier, I; Steinke-Lange, V; Tedaldi, G; Tejada, M -I; Woodward, E R; Tischkowitz, M; Hoogerbrugge, N; Oliveira, C

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

Human Mutation

Thomassen, M; Mesman, R L S; Hansen, T V O; Menendez, M; Rossing, M; Esteban-Sánchez, A; Tudini, E; Törngren, T; Parsons, M T; Pedersen, I S; Teo, S H; Kruse, T A; Møller, P; Borg, Å; Jensen, U B; Christensen, L L; Singer, C F; Muhr, D; Santamarina, M; Brandao, R; Andresen, B S; Feng, B -J; Canson, D; Richardson, M E; Karam, R; Pesaran, T; LaDuca, H; Conner, B R; Abualkheir, N; Hoang, L; Calléja, F M G R; Andrews, L; James, P A; Bunyan, D; Hamblett, A; Radice, P; Goldgar, D E; Walker, L C; Engel, C; Claes, K B M; Macháčková, E; Baralle, D; Viel, A; Wappenschmidt, B; Lazaro, C; Vega, A; Vreeswijk, M P G; Hoya, M; Spurdle, A B

A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

Molecular Cancer Therapeutics

Fernández-Rodríguez, J; Creus-Bachiller, E; Zhang, X; Martínez-Iniesta, M; Ortega-Bertran, S; Guha, R; Thomas, C J; Wallace, M R; Romagosa, C; Salazar-Huayna, L; Reilly, K M; Blakely, J O; Serra-Musach, J; Pujana, M A; Serra, E; Villanueva, A; Ferrer, M; Lázaro, C

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Genetics in Medicine

Plotkin, S R; Messiaen, L; Legius, E; Pancza, P; Avery, R A; Blakeley, J O; Babovic-Vuksanovic, D; Ferner, R; Fisher, M J; Friedman, J M; Giovannini, M; Gutmann, D H; Hanemann, C O; Kalamarides, M; Kehrer-Sawatzki, H; Korf, B R; Mautner, V -F; MacCollin, M; Papi, L; Rauen, K A; Riccardi, V; Schorry, E; Smith, M J; Stemmer-Rachamimov, A; Stevenson, D A; Ullrich, N J; Viskochil, D; Wimmer, K; Yohay, K; Anten, M; Aylsworth, A; Baralle, D; Barbarot, S; Barker, F; Ben-Shachar, S; Bergner, A; Bessis, D; Blanco, I; Cassiman, C; Ciavarelli, P; Clementi, M; Frébourg, T; Gomes, A; Halliday, D; Heiberg, C H; Joly, P; Jordan, J T; Karajannis, M; Kroshinsky, D; Larralde, M; Lázaro, C; Le, L; Link, M; Listernick, R; Mallucci, C; Merker, V L; Moertel, C; Mueller, A; Ngeow, J; Oostenbrink, R; Packer, R; Parry, A; Peltonen, J; Pichard, D; Poppe, B; Rezende, N; Rodrigues, L O; Rosser, T; Ruggieri, M; Serra, E; Steinke-Lange, V; Stivaros, S M; Taylor, A; Toelen, J; Tonsgard, J; Trevisson, E; Upadhyaya, M; Varan, A; Wilson, M; Wu, H; Zadeh, G; Huson, S M; Wolkenstein, P; Evans, D G

Mosaicism in PTEN—new case and comment on the literature

European Journal of Human Genetics

Rofes, P; Teulé, Á; Feliubadaló, L; Salinas, M; Cuesta, R; Iglesias, S; Campos, O; González, S; Capellá, G; Brunet, J; Valle, J; Lázaro, C

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Journal of Molecular Diagnostics

Bullich, G; Matalonga, L; Pujadas, M; Papakonstantinou, A; Piscia, D; Tonda, R; Artuch, R; Gallano, P; Garrabou, G; González, J R; Grinberg, D; Guitart, M; Laurie, S; Lázaro, C; Luengo, C; Martí, R; Milà, M; Ovelleiro, D; Parra, G; Pujol, A; Tizzano, E; Macaya, A; Palau, F; Ribes, A; Pérez-Jurado, L A; Beltran, S; Schlüter, A; Rodriguez-Palmero, A; Cáceres, A; Nascimento, A; García-Cazorla, À; Cueto-González, A; Marcé-Grau, A; Nel.lo, A R; Martínez-Monseny, A; Sànchez, A; García, B; Pérez-Dueñas, B; Gel, B; Fusté, B; Hernández-Ferrer, C; Casasnovas, C; Ortez, C; Arjona, C; Hernando-Davalillo, C; Benito, D N; Amador, D P; Gómez-Andrés, D; Yubero, D; Pelegrí-Sisó, D; Verdura, E; García-Arumí, E; Castellanos, E; Gabau, E; Tobías, E; López-Grondona, F; Cardellach, F; Garcia-Garcia, F J; Munell, F; Tort, F; Aznar, G; Olivé-Cirera, G; Tell, G; Muñoz-Pujol, G; Paramonov, I; Blanco, I; Madrigal, I; Valenzuela, I; Gut, I; Cusco, I; Trotta, J -R; Cruz, J; Díaz-Manera, J; Milisenda, J C; Grau, J; Garcia-Villoria, J; Armstrong, J; Cantó, J; Sala-Coromina, J; Rodríguez-Revenga, L; Alias, L; Gort, L; González-Quereda, L; Costa, M; Fernández-Callejo, M; López-Sánchez, M; Álvarez-Mora, M I; Gut, M; Serrano, M; Raspall-Chaure, M; Toro, M D; Bayés, M; Díez, N B; Spataro, N; Capdevila, N; Ugarteburu, O; Muñoz-Cabello, P; Duque, P R; Rabionet, R; Rojas-García, R; Calvo, R; Urreizti, R; Bernal, S; Boronat, S; Balcells, S; Vendrell, T

Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas

Cell Reports

Mazuelas, H; Magallón-Lorenz, M; Fernández-Rodríguez, J; Uriarte-Arrazola, I; Richaud-Patin, Y; Terribas, E; Villanueva, A; Castellanos, E; Blanco, I; Raya, Á; Chojnacki, J; Heyn, H; Romagosa, C; Lázaro, C; Gel, B; Carrió, M; Serra, E

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

Journal of Medical Genetics

Moreno-Cabrera, J M; Valle, J; Feliubadaló, L; Pineda, M; González, S; Campos, O; Cuesta, R; Brunet, J; Serra, E; Capellà, G; Gel, B; Lázaro, C

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Journal of the National Cancer Institute

Barnes, D R; Silvestri, V; Leslie, G; McGuffog, L; Dennis, J; Yang, X; Adlard, J; Agnarsson, B A; Ahmed, M; Aittomaki, K; Andrulis, I L; Arason, A; Arnold, N; Auber, B; Azzollini, J; Balmana, J; Barkardottir, R B; Barrowdale, D; Barwell, J; Belotti, M; Benitez, J; Berthet, P; Boonen, S E; Borg, A; Bozsik, A; Brady, A F; Brennan, P; Brewer, C; Brunet, J; Bucalo, A; Buys, S S; Caldes, T; Caligo, M A; Campbell, I; Cassingham, H; Christensen, L L; Cini, G; Claes, K B M; Cook, J; Coppa, A; Cortesi, L; Damante, G; Darder, E; Davidson, R; Hoya, M; Leeneer, K; Putter, R; Valle, J; Diez, O; Ding, Y C; Domchek, S M; Donaldson, A; Eason, J; Eeles, R; Engel, C; Evans, D G; Feliubadalo, L; Fostira, F; Frone, M; Frost, D; Gallagher, D; Gehrig, A; Giraud, S; Glendon, G; Godwin, A K; Goldgar, D E; Greene, M H; Gregory, H; Gross, E; Hahnen, E; Hamann, U; Hansen, T V O; Hanson, H; Hentschel, J; Horvath, J; Izatt, L; Izquierdo, A; James, P A; Janavicius, R; Jensen, U B; Johannsson, O T; John, E M; Kramer, G; Kroeldrup, L; Kruse, T A; Lautrup, C; Lazaro, C; Lesueur, F; Lopez-Fernandez, A; Mai, P L; Manoukian, S; Matrai, Z; Matricardi, L; Maxwell, K N; Mebirouk, N; Meindl, A; Montagna, M; Monteiro, A N; Morrison, P J; Muranen, T A; Murray, A; Nathanson, K L; Neuhausen, S L; Nevanlinna, H; Nguyen-Dumont, T; Niederacher, D; Olah, E; Olopade, O I; Palli, D; Parsons, M T; Pedersen, I S; Peissel, B; Perez-Segura, P; Peterlongo, P; Petersen, A H; Pinto, P; Porteous, M E; Pottinger, C; Pujana, M A; Radice, P; Ramser, J; Rantala, J; Robson, M; Rogers, M T; Rønlund, K; Rump, A; Abajo, A M; Shah, P D; Sharif, S; Side, L E; Singer, C F; Stadler, Z; Steele, L; Stoppa-Lyonnet, D; Sutter, C; Tan, Y Y; Teixeira, M R; Teule, A; Thull, D L; Tischkowitz, M; Toland, A E; Tommasi, S; Toss, A; Trainer, A H; Tripathi, V; Valentini, V; Asperen, C J; Venturelli, M; Viel, A; Vijai, J; Walker, L; Wang-Gohrke, S; Wappenschmidt, B; Whaite, A; Zanna, I; Offit, K; Thomassen, M; Couch, F J; Schmutzler, R K; Simard, J; Easton, D F; Chenevix-Trench, G; Antoniou, A C; Ottini, L

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

Scientific Reports

Biayna, J; Mazuelas, H; Gel, B; Terribas, E; Dumbovic, G; Rosas, I; Fernández-Rodriguez, J; Blanco, I; Castellanos, E; Carrió, M; Lazaro, C; Serra, E

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

Scientific Reports

Rofes, P; Pineda, M; Feliubadaló, L; Menéndez, M; Cid, R; Gómez, C; Montes, E; Capellá, G; Brunet, J; Valle, J; Lázaro, C

CNVfilteR: An R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

Bioinformatics

Moreno-Cabrera, J M; Valle, J; Castellanos, E; Feliubadaló, L; Pineda, M; Serra, E; Capellá, G; Lázaro, C; Gel, B

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

Journal of Molecular Diagnostics

Rofes, P; González, S; Navarro, M; Moreno-Cabrera, J M; Solanes, A; Darder, E; Carrasco, E; Iglesias, S; Salinas, M; Gómez, C; Velasco, À; Tuset, N; Varela, M; Llort, G; Cajal, T; Grau, È; Dueñas, N; Merlano, N; Matías-Guiu, X; Rivera, B; Balmaña, J; Pineda, M; Brunet, J; Capellá, G; Valle, J; Lázaro, C

Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation

Human Genetics

Magallón-Lorenz, M; Fernández-Rodríguez, J; Terribas, E; Creus-Batchiller, E; Romagosa, C; Estival, A; Sidelnikova, D; Salvador, H; Villanueva, A; Blanco, I; Carrió, M; Lázaro, C; Serra, E; Gel, B

Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario (Journal of Cancer Research and Clinical Oncology, (2021), 147, 3, (871-879), 10.1007/s00432-020-03377-6)

Journal of Cancer Research and Clinical Oncology

Lerner-Ellis, J; Mighton, C; Lazaro, C; Watkins, N; Gioacchino, V; Wong, A; Chang, M C; Charames, G S

Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

European Journal of Cancer

Stradella, A; Valle, J; Brunet, J; Lázaro, C

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in Medicine

Legius, E; Messiaen, L; Wolkenstein, P; Pancza, P; Avery, R A; Berman, Y; Blakeley, J; Babovic-Vuksanovic, D; Cunha, K S; Ferner, R; Fisher, M J; Friedman, J M; Gutmann, D H; Kehrer-Sawatzki, H; Korf, B R; Mautner, V -F; Peltonen, S; Rauen, K A; Riccardi, V; Schorry, E; Stemmer-Rachamimov, A; Stevenson, D A; Tadini, G; Ullrich, N J; Viskochil, D; Wimmer, K; Yohay, K; Gomes, A; Jordan, J T; Mautner, V; Merker, V L; Smith, M J; Anten, M; Aylsworth, A; Baralle, D; Barbarot, S; Barker, F; Ben-Shachar, S; Bergner, A; Bessis, D; Blanco, I; Cassiman, C; Ciavarelli, P; Clementi, M; Frébourg, T; Giovannini, M; Halliday, D; Hammond, C; Hanemann, C O; Hanson, H; Heiberg, A; Joly, P; Kalamarides, M; Karajannis, M; Kroshinsky, D; Larralde, M; Lázaro, C; Le, L; Link, M; Listernick, R; MacCollin, M; Mallucci, C; Moertel, C; Mueller, A; Ngeow, J; Oostenbrink, R; Packer, R; Papi, L; Parry, A; Peltonen, J; Pichard, D; Poppe, B; Rezende, N; Rodrigues, L O; Rosser, T; Ruggieri, M; Serra, E; Steinke-Lange, V; Stivaros, S M; Taylor, A; Toelen, J; Tonsgard, J; Trevisson, E; Upadhyaya, M; Varan, A; Wilson, M; Wu, H; Zadeh, G; Huson, S M; Evans, D G; Plotkin, S R

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

Frontiers in Immunology

Solanich, X; Vargas-Parra, G; Made, C I; Simons, A; Schuurs-Hoeijmakers, J; Antolí, A; Valle, J; Rocamora-Blanch, G; Setién, F; Esteller, M; Reijmersdal, S V; Riera-Mestre, A; Sabater-Riera, J; Capellá, G; Veerdonk, F L; Hoven, B; Corbella, X; Hoischen, A; Lázaro, C

Exome and genome sequencing in adults with undiagnosed disease: A prospective cohort study

Journal of Medical Genetics

Shickh, S; Salazar, M; Zakoor, K -R; Lázaro, C; Gu, J; Goltz, J; Kleinman, D; Noor, A; Khalouei, S; Mighton, C; Reble, E; Kodida, R; Bombard, Y; DItroia, S; Baxter, S; Watkins, N; Care, M; Adler, A; Horsburgh, S; Morar, O; Murphy, J; Nevay, D -L; Szybowska, M; Aronson, M; Panchal, S; Godoy, R; Holter, S; Armel, S; Semotiuk, K; Elser, C; Kim, R H; Chitayat, D; So, J; Faghfoury, H; Silver, J; Morel, C F; Lerner-Ellis, J

Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario

Journal of Cancer Research and Clinical Oncology

Lerner-Ellis, J; Mighton, C; Lazaro, C; Watkins, N; Gioacchino, V; Wong, A; Chang, M C; Charames, G S

Clinical DNA Variant Interpretation: Theory and Practice: A volume in Translational and Applied Genomics

Clinical DNA Variant Interpretation: Theory and Practice: A Volume in Translational and Applied Genomics

Lázaro, C; Lerner-Ellis, J; Spurdle, A

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

Clinical Chemistry

Feliubadaló, L; Moles-Fernández, A; Santamariña-Pena, M; Sánchez, A T; López-Novo, A; Porras, L -M; Blanco, A; Capellá, G; Hoya, M; Molina, I J; Osorio, A; Pineda, M; Rueda, D; Cruz, X; Diez, O; Ruiz-Ponte, C; Gutiérrez-Enríquez, S; Vega, A; Lázaro, C

Bard1 pathogenic variants are associated with triple-negative breast cancer in a spanish hereditary breast and ovarian cancer cohort

Genes

Rofes, P; Valle, J D; Torres-Esquius, S; Feliubadaló, L; Stradella, A; Moreno-Cabrera, J M; López-Doriga, A; Munté, E; Cid, R; Campos, O; Cuesta, R; Teulé, Á; Grau, È; Sanz, J; Capellá, G; Díez, O; Brunet, J; Balmaña, J; Lázaro, C

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines

Journal of Molecular Diagnostics

Rofes, P; Menéndez, M; González, S; Tornero, E; Gómez, C; Vargas-Parra, G; Montes, E; Salinas, M; Solanes, A; Brunet, J; Teulé, A; Capellá, G; Feliubadaló, L; Valle, J; Pineda, M; Lázaro, C

ERCC3, a new ovarian cancer susceptibility gene?

European Journal of Cancer

Stradella, A; Valle, J; Rofes, P; Vargas-Parra, G; Salinas, M; González, S; Montes, E; López-Doriga, A; Gómez, C; Cid, R; Darder, E; Teulé, A; Solanes, A; Munté, E; Capellà, G; Pineda, M; Feliubadaló, L; Brunet, J; Lázaro, C

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients

Human Mutation

Vargas-Parra, G; Valle, J; Rofes, P; Gausachs, M; Stradella, A; Moreno-Cabrera, J M; Velasco, A; Tornero, E; Menéndez, M; Muñoz, X; Iglesias, S; López-Doriga, A; Azuara, D; Campos, O; Cuesta, R; Darder, E; Cid, R; González, S; Teulé, A; Navarro, M; Brunet, J; Capellá, G; Pineda, M; Feliubadaló, L; Lázaro, C

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

European Journal of Human Genetics

Moreno-Cabrera, J M; Valle, J; Castellanos, E; Feliubadaló, L; Pineda, M; Brunet, J; Serra, E; Capellà, G; Lázaro, C; Gel, B

Tumor brca testing in high grade serous carcinoma: Mutation rates and optimal tissue requirements

Cancers

Turashvili, G; Lazaro, C; Ying, S; Charames, G; Wong, A; Hamilton, K; Yee, D; Agro, E; Chang, M; Pollett, A; Lerner-Ellis, J

Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel

Journal of Medical Genetics

Lerner-Ellis, J; Lerner-Ellis, J; Lerner-Ellis, J; Sopik, V; Wong, A; Lázaro, C; Lázaro, C; Lázaro, C; Narod, S A; Charames, G S; Charames, G S; Charames, G S

Exploring the role of mutations in fanconi anemia genes in hereditary cancer patients

Cancers

Valle, J; Rofes, P; Moreno-Cabrera, J M; López-Dóriga, A; Belhadj, S; Vargas-Parra, G; Teulé, À; Cuesta, R; Muñoz, X; Campos, O; Salinas, M; Cid, R; Brunet, J; González, S; Capellá, G; Pineda, M; Feliubadaló, L; Lázaro, C

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

Annals of Oncology

Pros, E; Saigi, M; Alameda, D; Gomez-Mariano, G; Martinez-Delgado, B; Alburquerque-Bejar, J J; Carretero, J; Tonda, R; Esteve-Codina, A; Catala, I; Palmero, R; Jove, M; Lazaro, C; Patiño-Garcia, A; Gil-Bazo, I; Verdura, S; Teulé, A; Torres-Lanzas, J; Sidransky, D; Reguart, N; Pio, R; Juan-Vidal, O; Nadal, E; Felip, E; Montuenga, L M; Sanchez-Cespedes, M

Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor

Therapeutic Advances in Medical Oncology

Fernández-Rodríguez, J; Madrid, A; Gel, B; Heredia, A; Salvador, H; Martínez-Iniesta, M; Moutinho, C; Morata, J; Heyn, H; Blanco, I; Creus-Bachiller, E; Capella, G; Farré, L; Vidal, A; Soldado, F; Krauel, L; Suñol, M; Serra, E; Villanueva, A; Lázaro, C

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context

bioRxiv

Moreno-Cabrera, J M; Valle, J D; Castellanos, E; Feliubadaló, L; Pineda, M; Brunet, J; Serra, E; Capellà, G; Lázaro, C; Gel, B

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

International Journal of Cancer

Feliubadaló, L; López-Fernández, A; Pineda, M; Díez, O; Valle, J; Gutiérrez-Enríquez, S; Teulé, A; González, S; Stjepanovic, N; Salinas, M; Capellá, G; Brunet, J; Lázaro, C; Balmaña, J; Campos, O; Carrasco, E; Cuesta, R; Darder, E; Gadea, N; Gómez, C; Grau, E; Iglesias, S; Izquierdo, A; Llort, G; Menéndez, M; Moles-Fernández, A; Montes, E; Muñoz, X; Navarro, M; Cajal, T; Sanz, J; Solanes, A; Stradella, A; Tornero, E; Torres-Esquius, S; Tuset, N; Urgell, G; Velasco, A

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Journal of Medical Genetics

Stradella, A; Valle, J; Rofes, P; Feliubadaló, L; Garces, È; Velasco, À; González, S; Vargas, G; Izquierdo, Á; Campos, O; Tornero, E; Navarro, M; Balmaña-Gelpi, J; Capellá, G; Pineda, M; Brunet, J; Lázaro, C

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Familial Cancer

Vos, J R; Giepmans, L; Röhl, C; Geverink, N; Hoogerbrugge, N; Hoogerbrugge, N; Ligtenberg, M; Kets, M; Sijmons, R; Evans, G; Woodward, E; Tischkowitz, M; Maher, E; Steinke-Lange, V; Holinski-Feder, E; Frebourg, T; Houdayer, C; Ferner, R E; Lubinski, J; Ertmanska, K; Lagercrantz, S B; Tham, E; Guillermo, I; Capella, G; Vidal, J; Lázaro, C; Balmaña, J; Bours, V; Legius, E; Wolkenstein, P; Melegh, B; Oliveira, C; Teixeira, M; Poppe, B; Claes, K; Hernandez, H; Aretz, S; Spier, I; Oostenbrink, R; Krajc, M; Blatnik, A; Schröck, E; Peltonen, S; Hietala, M; Colas, C

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: A new genotype-phenotype correlation

Journal of Medical Genetics

Frayling, I M; Mautner, V -F; Minkelen, R; Kallionpaa, R A; Aktas, S; Baralle, D; Ben-Shachar, S; Callaway, A; Cox, H; Eccles, D M; Ferkal, S; Laduca, H; Lázaro, C; Rogers, M T; Stuenkel, A J; Summerour, P; Varan, A; Yap, Y S; Zehou, O; Peltonen, J; Evans, D G; Wolkenstein, P; Upadhyaya, M

Erratum: Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas (Stem Cell Reports (2019) 12(2) (411–426), (S2213671119300025) (10.1016/j.stemcr.2019.01.001))

Stem Cell Reports

Carrió, M; Mazuelas, H; Richaud-Patin, Y; Gel, B; Terribas, E; Rosas, I; Jimenez-Delgado, S; Biayna, J; Vendredy, L; Blanco, I; Castellanos, E; Lázaro, C; Raya, Á; Serra, E

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer

Medicina Clinica

Soto, J L; Blanco, I; Díez, O; Planells, J; Lorda, I; Matthijs, G; Robledo, M; Souche, E; Lázaro, C

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

Human Mutation

Carrió, M; Gel, B; Terribas, E; Zucchiatti, A C; Moliné, T; Rosas, I; Teulé, Á; Cajal, S; López-Gutiérrez, J C; Blanco, I; Castellanos, E; Lázaro, C; Stemmer-Rachamimov, A; Romagosa, C; Serra, E

Genetic testing in hereditary colorectal cancer

Hereditary Colorectal Cancer: Genetic Basis and Clinical Implications

Lázaro, C; Feliubadaló, L; Valle, J

A comprehensive custom panel design for routine hereditary cancer testing: Preserving control, improving diagnostics and revealing a complex variation landscape

Scientific Reports

Castellanos, E; Gel, B; Rosas, I; Tornero, E; Santín, S; Pluvinet, R; Velasco, J; Sumoy, L; Valle, J; Perucho, M; Blanco, I; Navarro, M; Brunet, J; Pineda, M; Feliubadaló, L; Capellá, G; Lázaro, C; Serra, E

Benchmarking of whole exome sequencing and Ad Hoc designed panels for genetic testing of hereditary cancer

Scientific Reports

Feliubadaló, L; Tonda, R; Gausachs, M; Trotta, J -R; Castellanos, E; López-Doriga, A; Teulé, A; Tornero, E; Valle, J; Gel, B; Gut, M; Pineda, M; González, S; Menéndez, M; Navarro, M; Capellá, G; Gut, I; Serra, E; Brunet, J; Beltran, S; Lázaro, C

Identification of a founder BRCA1 mutation in the Moroccan population

Clinical Genetics

Quiles, F; Teulé, À; Tandstad, N; Feliubadaló, L; Tornero, E; Valle, J; Menéndez, M; Salinas, M; Rognlien, V; Velasco, A; Izquierdo, A; Capellá, G; Brunet, J; Lázaro, C

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

Breast Cancer Research and Treatment

Quiles, F; Menéndez, M; Tornero, E; Valle, J; Teulé, À; Palanca, S; Izquierdo, A; Gómez, C; Campos, O; Santamaria, R; Brunet, J; Capellá, G; Feliubadaló, L; Lázaro, C

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine

EMBO Molecular Medicine

Castellsagué, J; Gel, B; Fernández-Rodríguez, J; Llatjós, R; Blanco, I; Benavente, Y; Pérez-Sidelnikova, D; Muro, J; Viñals, J M; Vidal, A; Valdés-Mas, R; Terribas, E; López-Doriga, A; Pujana, M A; Capellá, G; Puente, X S; Serra, E; Villanueva, A; Lázaro, C

ICO amplicon NGS data analysis: A web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-generation sequencing

Human Mutation

Lopez-Doriga, A; Feliubadaló, L; Menéndez, M; Lopez-Doriga, S; Morón-Duran, F D; Valle, J; Tornero, E; Montes, E; Cuesta, R; Campos, O; Gómez, C; Pineda, M; González, S; Moreno, V; Capellá, G; Lázaro, C

Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

European Journal of Human Genetics

Feliubadaló, L; Lopez-Doriga, A; Castellsagué, E; Valle, J; Menéndez, M; Tornero, E; Montes, E; Cuesta, R; Gómez, C; Campos, O; Pineda, M; González, S; Moreno, V; Brunet, J; Blanco, I; Serra, E; Capellá, G; Lázaro, C

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

PLoS ONE

Quiles, F; Fernández-Rodríguez, J; Mosca, R; Feliubadaló, L; Tornero, E; Brunet, J; Blanco, I; Capellá, G; Pujana, M À; Aloy, P; Monteiro, A; Lázaro, C

Genomic imbalance of HMMR/RHAMM regulates the sensitivity and response of malignant peripheral nerve sheath tumour cells to aurora kinase inhibition

Oncotarget

Mohan, P; Castellsague, J; Jiang, J; Allen, K; Chen, H; Nemirovsky, O; Spyra, M; Hu, K; Kluwe, L; Pujana, M A; Villanueva, A; Mautner, V F; Keats, J J; Dunn, S E; Lazaro, C; Maxwell, C A

Deep Intronic NF1 mutations and possible therapeutic interventions

Neurofibromatosis Type 1: Molecular and Cellular Biology

Lázaro, C; Fernández-Rodríguez, J; Serra, E

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

BMC Cancer

Fernández-Rodríguez, J; Quiles, F; Blanco, I; Teulé, A; Feliubadaló, L; Valle, J D; Salinas, M; Izquierdo, T; Darder, E; Schindler, D; Capellá, G; Brunet, J; Lázaro, C; Pujana, M A

Identification of a new complex rearrangement affecting exon 20 of BRCA1

Breast Cancer Research and Treatment

Valle, J; Campos, O; Velasco, A; Darder, E; Menéndez, M; Feliubadaló, L; Tornero, E; Blanco, I; Izquierdo, A; Brunet, J; Capellá, G; Lázaro, C

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

Human Mutation

Fernández-Rodríguez, J; Castellsagué, J; Benito, L; Benavente, Y; Capellá, G; Blanco, I; Serra, E; Lázaro, C

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: Review of the literature and report of a novel BRCA1 mutation

Breast Cancer Research and Treatment

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

Breast Cancer Research and Treatment

Valle, J; Feliubadaló, L; Nadal, M; Teulé, A; Miró, R; Cuesta, R; Tornero, E; Menéndez, M; Darder, E; Brunet, J; Capellà, G; Blanco, I; Lázaro, C

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

European Journal of Human Genetics

Pros, E; Fernández-Rodríguez, J; Benito, L; Ravella, A; Capellá, G; Blanco, I; Serra, E; Lázaro, C

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

Nature Genetics

Cid, R; Riveira-Munoz, E; Zeeuwen, P L J M; Robarge, J; Liao, W; Dannhauser, E N; Giardina, E; Stuart, P E; Nair, R; Helms, C; Escaramís, G; Ballana, E; Martín-Ezquerra, G; Heijer, M D; Kamsteeg, M; Joosten, I; Eichler, E E; Lázaro, C; Pujol, R M; Armengol, L; Abecasis, G; Elder, J T; Novelli, G; Armour, J A L; Kwok, P -Y; Bowcock, A; Schalkwijk, J; Estivill, X

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

Human Mutation

Pros, E; Fernández-Rodríguez, J; Canet, B; Benito, L; Sánchez, A; Benavides, A; Ramos, F J; López-Ariztegui, M A; Capellá, G; Blanco, I; Serra, E; Lázaro, C

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Human mutation

Pros, E; Gómez, C; Martín, T; Fábregas, P; Serra, E; Lázaro, C

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NFI patients

Genes Chromosomes and Cancer

Serra, E; Pros, E; García, C; López, E; Gili, M L; Gómez, C; Ravella, A; Capellá, G; Blanco, I; Lázaro, C

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Journal of Molecular Medicine

Hims, M M; Ibrahim, E C; Leyne, M; Mull, J; Liu, L; Lazaro, C; Shetty, R S; Gill, S; Gusella, J F; Reed, R; Slaugenhaupt, S A

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation

American Journal of Human Genetics

Upadhyaya, M; Huson, S M; Davies, M; Thomas, N; Chuzhanova, N; Giovannini, S; Evans, D G; Howard, E; Kerr, B; Griffiths, S; Consoli, C; Side, L; Adams, D; Pierpont, M; Hachen, R; Barnicoat, A; Li, H; Wallace, P; Biervliet, J P; Stevenson, D; Viskochil, D; Baralle, D; Haan, E; Riccardi, V; Turnpenny, P; Lazaro, C; Messiaen, L

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing

Human Mutation

Pros, E; Larriba, S; López, E; Ravella, A; Gili, M L; Kruyer, H; Valls, J; Serra, E; Lázaro, C

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Journal of medical genetics

Ars, E; Kruyer, H; Morell, M; Pros, E; Serra, E; Ravella, A; Estivill, X; Lázaro, C

Erratum: Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (Nature Genetics (2001) 28 (294-296))

Nature Genetics

Serra, E; Rosenbaum, T; Nadal, M; Winner, U; Ars, E; Estivill, X; Lázaro, C

CFTR and asthma in the French EGEA study

European Journal of Human Genetics

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Nature Genetics

Serra, E; Rosenbaum, T; Nadal, M; Winner, U; Ars, E; Estivill, X; Lázaro, C

Somatic NF1 mutational spectrum in benign neurofibromas: MRNA splice defects are common among point mutations

Human Genetics

Serra, E; Ars, E; Ravella, A; Sánchez, A; Puig, S; Rosenbaum, T; Estivill, X; Lázaro, C

Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two different Schwann cell subpopulations

Human Molecular Genetics

Serra, E; Rosenbaum, T; Winner, U; Aledo, R; Ars, E; Estivill, X; Lenard, H -G; Lázaro, C

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Nucleic Acids Research

Ars, E; Serra, E; Luna, S; Estivill, X; Lázaro, C

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

Human Molecular Genetics

Ars, E; Serra, E; García, J; Kruyer, H; Gaona, A; Lázaro, C; Estivill, X

Missense mutations in the cystic fibrosis gene in adult patients with asthma

Human Mutation

Lázaro, C; Cid, R; Sunyer, J; Soriano, J; Giménez, J; Álvarez, M; Casals, T; Antó, J M; Estivill, X

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

Prenatal Diagnosis

Ars, E; Kruyer, H; Gaona, A; Serra, E; Lázaro, C; Estivill, X

A clinical variant of neurofibromatosis type 1: Familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

American Journal of Human Genetics

Ars, E; Kruyer, H; Gaona, A; Casquero, P; Resell, J; Volpini, V; Serra, E; Lázaro, C; Estivill, X

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

American Journal of Human Genetics

Serra, E; Puig, S; Otero, D; Gaona, A; Kruyer, H; Ars, E; Estivill, X; Lázaro, C

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Human Genetics

Lázaro, C; Gaona, A; Ainsworth, P; Tenconi, R; Vidaud, D; Kruyer, H; Ars, E; Volpini, V; Estivill, X

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

Human Genetics

Lázaro, C; Kruyer, H; Gaona, A; Estivill, X

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Prenatal Diagnosis

Lazaro, C; Gaona, A; Ravella, A; Volpini, V; Estivill, X

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism

American Journal of Human Genetics

Lazaro, C; Gaona, A; Lynch, M; Kruyer, H; Ravella, A; Estivill, X

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

New England Journal of Medicine

Lazaro, C; Ravella, A; Gaona, A; Volpini, V; Estivill, X; Volpini, V

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene

Human Genetics

Lázaro, C; Gaona, A; Estivill, X

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

Human Genetics

Lázaro, C; Gaona, A; Xu, G; Weiss, R; Estivill, X

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

Human Molecular Genetics

Lázaro, C; Gaona, A; Ravella, A; Volpini, V; Casals, T; Fuentes, J -J; Estivill, X

Prenatal diagnosis of sporadic neurofibromatosis 1

The Lancet

Lazaro, C; Ravella, A; Casals, T; Volpini, V; Estivill, X

Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis

Molecular and Cellular Probes

Lázaro, C; Estivill, X