A case of a child with an APC pathogenic mutation, aberrant expression of splice variants and positive family history of FAP.

Taki, Keiko; Sato, Yasuyoshi; Sato, Yuri; Ashihara, Yuumi; Chino, Akiko; Igarashi, Masahiro; Sato, Koichiro; Kitagawa, Tomoyuki; Maetani, Iruru; Nemoto, Chieko; Nasuno, Kiyoto; Sekine, Takashi; Arai, Masami

Taki, Keiko; Sato, Yasuyoshi; Sato, Yuri; Ashihara, Yuumi; Chino, Akiko; Igarashi, Masahiro; Sato, Koichiro; Kitagawa, Tomoyuki; Maetani, Iruru; Nemoto, Chieko; Nasuno, Kiyoto; Sekine, Takashi; Arai, Masami.

Afiliação

Taki K; Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Sato Y; Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Sato Y; Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Ashihara Y; Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Chino A; Division of Gastroenterology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Igarashi M; Division of Gastroenterology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
Sato K; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo.
Kitagawa T; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo.
Maetani I; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo.
Nemoto C; Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo, Japan.
Nasuno K; Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo, Japan.
Sekine T; Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo, Japan.
Arai M; Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo marai@jfcr.or.jp.

Jpn J Clin Oncol ; 44(6): 602-6, 2014 Jun.

Article em En | MEDLINE | ID: mdl-24823678

Assuntos

Proteína da Polipose Adenomatosa do Colo/genética; Polipose Adenomatosa do Colo/diagnóstico; Polipose Adenomatosa do Colo/genética; Colonoscopia; Mutação em Linhagem Germinativa; Polipose Adenomatosa do Colo/patologia; Polipose Adenomatosa do Colo/cirurgia; Povo Asiático; Criança; Neoplasias do Colo/genética; Predisposição Genética para Doença; Testes Genéticos; Heterozigoto; Humanos; Masculino; Linhagem; Isoformas de Proteínas/genética; Reação em Cadeia da Polimerase Via Transcriptase Reversa

Palavras-chave

APC; FAP; splicing mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colonoscopia / Mutação em Linhagem Germinativa / Polipose Adenomatosa do Colo / Proteína da Polipose Adenomatosa do Colo Tipo de estudo: Prognostic_studies / Screening_studies Limite: Child / Humans / Male Idioma: En Revista: Jpn J Clin Oncol Ano de publicação: 2014 Tipo de documento: Article

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