Art

J-GLOBAL ID：201502218620593898   Reference number：15A0704971

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

大腸がん:塩基除去修復遺伝子NTHL1の生殖細胞系列ホモ接合性変異は大腸腺腫性ポリーポーシスと大腸がんを起こす。

Author (21)： WEREN Robbert D A (Radboud Univ. Medical Center, Nijmegen, NLD) ,  LIGTENBERG Marjolijn J L (Radboud Univ. Medical Center, Nijmegen, NLD) ,  KETS C Marleen (Radboud Univ. Medical Center, Nijmegen, NLD) ,  DE VOER Richarda M (Radboud Univ. Medical Center, Nijmegen, NLD) ,  VERWIEL Eugene T P (Radboud Univ. Medical Center, Nijmegen, NLD) ,  SPRUIJT Liesbeth (Radboud Univ. Medical Center, Nijmegen, NLD) ,  VAN ZELST-STAMS Wendy A G (Radboud Univ. Medical Center, Nijmegen, NLD) ,  JONGMANS Marjolijn C (Radboud Univ. Medical Center, Nijmegen, NLD) ,  GILISSEN Christian (Radboud Univ. Medical Center, Nijmegen, NLD) ,  HEHIR-KWA Jayne Y (Radboud Univ. Medical Center, Nijmegen, NLD) ,  HOISCHEN Alexander (Radboud Univ. Medical Center, Nijmegen, NLD) ,  KAMPING Eveline J (Radboud Univ. Medical Center, Nijmegen, NLD) ,  VAN KESSEL Ad Geurts (Radboud Univ. Medical Center, Nijmegen, NLD) ,  KUIPER Roland P (Radboud Univ. Medical Center, Nijmegen, NLD) ,  HOOGERBRUGGE Nicoline (Radboud Univ. Medical Center, Nijmegen, NLD) ,  NAGTEGAAL Iris D (Radboud Univ. Medical Center, Nijmegen, NLD) ,  TOPS Bastiaan B J (Radboud Univ. Medical Center, Nijmegen, NLD) ,  VAN KRIEKEN J Han J M (Radboud Univ. Medical Center, Nijmegen, NLD) ,  SHENDURE Jay (Univ. Washington, Washington, USA) ,  BOYLE Evan A (Univ. Washington, Washington, USA) ,  NAGENGAST Fokko M (Radboud Univ. Medical Center, Nijmegen, NLD)
Material： Nature Genetics  (Nat Genet)
Volume： 47  Issue： 6  Page： 668-671  Publication year： Jun. 2015 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *colorectal neoplasm ,  *excision repair ,  hereditary disease ,  colonic neoplasm ,  adenoma ,  intestinal polyp ,  *gene ,  case control study ,  nonsense mutation ,  allele ,  gene frequency ,  Carcinogenesis ,  LOH ,  reproductive cell ,  human ,  Heredity ,  population genetics
Semi thesaurus term： *NTHL1遺伝子 ,  Adenomatous Polyposis Coli

JST classification (2)： Genetic variation  (EC01030Y) ,  Carcinogenic mechanisms and factors  (GE02020C)

Terms in the title (8)： 大腸がん ,  塩基除去修復 ,  遺伝子 ,  生殖 ,  細胞系列 ,  ホモ接合性 ,  変異 ,  大腸腺腫