The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

Levi, Z; Kariv, R; Barnes-Kedar, I; Goldberg, Y; Half, E; Morgentern, S; Eli, B; Baris, H N; Vilkin, A; Belfer, R G; Niv, Y; Elhasid, R; Dvir, R; Abu-Freha, N; Cohen, S

Levi, Z; Kariv, R; Barnes-Kedar, I; Goldberg, Y; Half, E; Morgentern, S; Eli, B; Baris, H N; Vilkin, A; Belfer, R G; Niv, Y; Elhasid, R; Dvir, R; Abu-Freha, N; Cohen, S.

Afiliação

Levi Z; The Early Detection and High Risk GI Cancer Service, the Gastroenterology Division, Rabin Medical Center, Petach Tikva, Israel.
Kariv R; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Barnes-Kedar I; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldberg Y; Department of Gastroenterology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Half E; The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Morgentern S; The Sharett Institute for Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Eli B; Gastroenterology Department, Rambam Health Care Campus, Haifa, Israel.
Baris HN; Pathology Department, Rabin Medical Center, Petach Tikva, Israel.
Vilkin A; Pathology Department, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Belfer RG; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Niv Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Elhasid R; The Early Detection and High Risk GI Cancer Service, the Gastroenterology Division, Rabin Medical Center, Petach Tikva, Israel.
Dvir R; The Early Detection and High Risk GI Cancer Service, the Gastroenterology Division, Rabin Medical Center, Petach Tikva, Israel.
Abu-Freha N; The Early Detection and High Risk GI Cancer Service, the Gastroenterology Division, Rabin Medical Center, Petach Tikva, Israel.
Cohen S; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Clin Genet ; 88(5): 474-8, 2015 Nov.

Article em En | MEDLINE | ID: mdl-25307252

Assuntos

Pólipos Adenomatosos/genética; Neoplasias Encefálicas/genética; Neoplasias Colorretais/genética; Mutação; Síndromes Neoplásicas Hereditárias/genética; Adenosina Trifosfatases/genética; Adolescente; Árabes/genética; Neoplasias Encefálicas/diagnóstico; Criança; Neoplasias Colorretais/diagnóstico; Enzimas Reparadoras do DNA/genética; Proteínas de Ligação a DNA/genética; Endoscopia Gastrointestinal; Feminino; Humanos; Polipose Intestinal/congênito; Polipose Intestinal/diagnóstico; Polipose Intestinal/genética; Judeus/genética; Masculino; Endonuclease PMS2 de Reparo de Erro de Pareamento; Proteína 2 Homóloga a MutS/genética; Síndromes Neoplásicas Hereditárias/diagnóstico; Fenótipo; Adulto Jovem

Palavras-chave

Lynch syndrome; biallelic Lynch syndrome; constitutional mismatch repair deficiency syndrome; hereditary non-polyposis colorectal cancer

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Neoplasias Colorretais / Pólipos Adenomatosos / Mutação Tipo de estudo: Diagnostic_studies / Guideline Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article

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