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8 p, 1.4 MB |
Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma
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Trilla-Fuertes, Lucía (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain) ;
Ghanem, Ismael (Medical Oncology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Maurel, Joan (Medical Oncology Department, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors Group, IDIBAPS, University of Barcelona, Carrer de Villarroel 170, 08036, Barcelona, Spain) ;
G-Pastrián, Laura (Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Mendiola, Marta (Biomedical Research Networking Center on Oncology-CIBERONC, ISCIII, Av. Monforte de Lemos 5, 28029, Madrid, Spain) ;
Peña, Cristina (Pathology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
López-Vacas, Rocío (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Prado-Vázquez, Guillermo (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain) ;
López-Camacho, Elena (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Zapater-Moros, Andrea (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Heredia, Victoria (Translational Oncology Lab, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Cuatrecasas, Miriam (Pathology Department, Hospital Clínic Universitari de Barcelona, Carrer de Villarroel 170, 08036, Barcelona, Spain) ;
García-Alfonso, Pilar (Hospital General Universitario Gregorio Marañón) ;
Capdevila, Jaume (Vall d'Hebron Institut d'Oncologia) ;
Conill, Carles (Radiotherapy Oncology Department, Hospital Clínic Universitari de Barcelona, Carrer de Villarroel 170, 08036, Barcelona, Spain) ;
García-Carbonero, Rocío (Medical Oncology Department, Hospital Universitario 12 de Ocubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), UCM, CNIO, CIBERONC, Av. Córdoba s/n, 28041, Madrid, Spain) ;
Heath, Karen E. (Institute of Medical and Molecular Genetics, IdiPAZ, Hospital Universitario La Paz /& CIBERER, Unit 753, ISCIII, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Ramos-Ruiz, Ricardo (Genomics Unit Cantoblanco, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain) ;
Llorens, Carlos (Biotechvana SL, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain) ;
Campos-Barros, Ángel (Institute of Medical and Molecular Genetics, IdiPAZ, Hospital Universitario La Paz /& CIBERER, Unit 753, ISCIII, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Gámez-Pozo, Angelo (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain) ;
Feliu, Jaime (Cátedra UAM-Amgen, Universidad Autónoma de Madrid, Ciudad Universitaria de Cantoblanco, 28049, Madrid, Spain) ;
Vara, Juan Ángel Fresno (Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain)
Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. [...]
2020 -  10.1016/j.tranon.2020.100778
Translational Oncology, Vol. 13 (may 2020)
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11 p, 1.2 MB |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ;
Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ;
Allen, William (Fullerton Genetics Center, Asheville) ;
Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ;
Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Barakat, Bushra A.Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Barraza-García, Jimena (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Cruz-Rojo, Jaime (Hospital 12 Octubre. Department of Pediatric Endocrinology & Dysmorphology) ;
Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ;
GOSgene (UCL Great Ormond Street Institute of Child Health) ;
Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ;
Jobling, Rebekah (The Hospital for Sick Children, Toronto) ;
Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ;
Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ;
Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ;
Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ;
Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ;
Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ;
Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ;
Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ;
Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ;
Stevens, Paul (Cytogenetics Department, Viapath Analytics) ;
Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ;
Turner, Lesley (Memorial University of Newfoundland) ;
Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ;
Wilson, Carolyn (Fullerton Genetics Center) ;
Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ;
Zahavich, Laura (The Hospital for Sick Children) ;
Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Center. Department of Genetics) ;
Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ;
Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ;
Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ;
Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ;
Heath, Karen E. (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine)
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231
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