title: Hereditary gastrointestinal cancer.
abstract: Gastrointestinal (GI) cancer, including gastric and colorectal cancer, is a major cause of death worldwide. A substantial proportion of patients with GI cancer have a familial history, and several causative genes have been identified. Gene carriers with these hereditary GI syndromes often harbor several kinds of cancer at an early age, and genetic testing and specific surveillance may save their lives through early detection. Gastroenterologists and GI surgeons should be familiar with these syndromes, even though they are not always associated with a high penetrance of GI cancer. In this review, we provide an overview and discuss the diagnosis, genetic testing, and management of four major hereditary GI cancers: familial adenomatous polyposis, Lynch syndrome, hereditary diffuse gastric cancer, and Li-Fraumeni syndrome.
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Hata
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yamamoto
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Tomomichi
authors.initials: T
authors.lastname: Kiyomatsu
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Tanaka
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Kazama
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nozawa
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Kazushige
authors.initials: K
authors.lastname: Kawai
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Junichiro
authors.initials: J
authors.lastname: Tanaka
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nishikawa
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Otani
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Yasuda
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Kishikawa
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Nagai
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Anzai
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Takahide
authors.initials: T
authors.lastname: Shinagawa
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Arakawa
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Yamaguchi
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Soichiro
authors.initials: S
authors.lastname: Ishihara
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Sunami
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
authors.forename: Joji
authors.initials: J
authors.lastname: Kitayama
authors.affiliation: Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan. toshwatanabe@yahoo.co.jp.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Watanabe
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D005820:Genetic Testing; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D000070957:MutL Protein Homolog 1 / Q000235:genetics; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; C501486:MLH1 protein, human; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
keywords: Familial adenomatous polyposis; Hereditary diffuse gastric cancer; Li–Fraumeni syndrome; Lynch syndrome