Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri.

Afiliação

Bakry D; Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
Aronson M; The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Disease and Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada.
Durno C; The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Disease and Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada; Division of Gastroenterology, Nutrition and Hepatology, The Hospital for Sick Children, Toronto, Canada.
Rimawi H; Faculty of Medicine, Jordan University of Science & Technology, Irbid, Jordan.
Farah R; Saint George Hospital University Medical Center, Beirut, Lebanon.
Alharbi QK; King Fahad Specialist Hospital, Department of Pediatric Hematology/Oncology and Stem Cell Transplant, Dammam, Saudi Arabia.
Alharbi M; King Fahad City Center, Riyahd, Saudi Arabia.
Shamvil A; Children Cancer Hospital, Karachi, Pakistan.
Ben-Shachar S; The Gilbert Israeli Neurofibromatosis Center (GINFC), Tel-Aviv Medical Center, Tel-Aviv, Israel.
Mistry M; Genetic and Genomic Program, Institute of Medical Sciences, The University of Toronto, Israel.
Constantini S; Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel-Aviv Medical Center, Tel-Aviv, Israel.
Dvir R; Pediatric Hemato-Oncology Department, Tel Aviv Medical Center, Tel-Aviv, Israel.
Qaddoumi I; St. Jude Children's Research Hospital, Memphis, TN, USA.
Gallinger S; The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Disease and Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada.
Lerner-Ellis J; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Canada; Dept of Lab Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Ontario Institute of Cancer Research, Genome Technologies Platform, Canada.
Pollett A; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Canada; Dept of Lab Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Stephens D; Dalla Lana School of Public Health University of Toronto, Canada; Clinical Research, The Hospital for Sick Children, Canada.
Kelies S; Ambry Genetics, Aliso Viejo, CA, USA.
Chao E; Ambry Genetics, Aliso Viejo, CA, USA.
Malkin D; Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
Bouffet E; Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Arthur and Sonia Labbatt Brain Tumor Research Center, Toronto, Ontario, Cana
Hawkins C; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Tabori U; Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Arthur and Sonia Labbatt Brain Tumor Research Center, Toronto, Ontario, Cana

Eur J Cancer ; 50(5): 987-96, 2014 Mar.

Article em En | MEDLINE | ID: mdl-24440087

Assuntos

Reparo de Erro de Pareamento de DNA/genética; Instabilidade de Microssatélites; Mutação; Proteínas Adaptadoras de Transdução de Sinal/genética; Proteínas Adaptadoras de Transdução de Sinal/metabolismo; Adenosina Trifosfatases/genética; Adenosina Trifosfatases/metabolismo; Adolescente; Manchas Café com Leite/diagnóstico; Manchas Café com Leite/genética; Manchas Café com Leite/metabolismo; Criança; Pré-Escolar; Enzimas Reparadoras do DNA/genética; Enzimas Reparadoras do DNA/metabolismo; Proteínas de Ligação a DNA/genética; Proteínas de Ligação a DNA/metabolismo; Saúde da Família; Feminino; Humanos; Imuno-Histoquímica; Lactente; Masculino; Endonuclease PMS2 de Reparo de Erro de Pareamento; Proteína 1 Homóloga a MutL; Proteína 2 Homóloga a MutS/genética; Proteína 2 Homóloga a MutS/metabolismo; Neoplasias/diagnóstico; Neoplasias/genética; Neoplasias/metabolismo; Proteínas Nucleares/genética; Proteínas Nucleares/metabolismo; Linhagem; Síndrome

Palavras-chave

Constitutional mismatch repair deficiency syndrome; MLH1; MSH2; MSH6; Microsatellite instability; PMS2

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Instabilidade de Microssatélites / Reparo de Erro de Pareamento de DNA / Mutação Tipo de estudo: Diagnostic_studies / Guideline Idioma: En Revista: Eur J Cancer Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Canadá

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