Literature DB >> 14522379

Familial hepatoblastoma and APC gene mutations: renewed call for molecular research.

D Thomas1, J Pritchard, R Davidson, P McKiernan, R G Grundy, J de Ville de Goyet.   

Abstract

Recent findings have increased our understanding of the molecular mechanisms involved in the pathogenesis of hepatoblastoma and their relationship to the molecular pathology of familial adenomatous polyposis (FAP). Here, we describe hepatoblastoma in siblings who share a gene mutation for FAP inherited from their father. This observation confirms the link between these diseases and has implications for future molecular research. We also raise the question; should other members of 'at-risk' families be screened following a new diagnosis of either hepatoblastoma or FAP?

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Year:  2003        PMID: 14522379     DOI: 10.1016/s0959-8049(03)00618-x

Source DB:  PubMed          Journal:  Eur J Cancer        ISSN: 0959-8049            Impact factor:   9.162


  8 in total

Review 1.  Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Authors:  Hideyuki Ishida; Tatsuro Yamaguchi; Kohji Tanakaya; Kiwamu Akagi; Yasuhiro Inoue; Kensuke Kumamoto; Hideki Shimodaira; Shigeki Sekine; Toshiaki Tanaka; Akiko Chino; Naohiro Tomita; Takeshi Nakajima; Hirotoshi Hasegawa; Takao Hinoi; Akira Hirasawa; Yasuyuki Miyakura; Yoshie Murakami; Kei Muro; Yoichi Ajioka; Yojiro Hashiguchi; Yoshinori Ito; Yutaka Saito; Tetsuya Hamaguchi; Megumi Ishiguro; Soichiro Ishihara; Yukihide Kanemitsu; Hiroshi Kawano; Yusuke Kinugasa; Norihiro Kokudo; Keiko Murofushi; Takako Nakajima; Shiro Oka; Yoshiharu Sakai; Akihiko Tsuji; Keisuke Uehara; Hideki Ueno; Kentaro Yamazaki; Masahiro Yoshida; Takayuki Yoshino; Narikazu Boku; Takahiro Fujimori; Michio Itabashi; Nobuo Koinuma; Takayuki Morita; Genichi Nishimura; Yuh Sakata; Yasuhiro Shimada; Keiichi Takahashi; Shinji Tanaka; Osamu Tsuruta; Toshiharu Yamaguchi; Kenichi Sugihara; Toshiaki Watanabe
Journal:  J Anus Rectum Colon       Date:  2018-05-25

Review 2.  TTD consensus document on the diagnosis and management of hereditary colorectal cancer.

Authors:  Pedro Pérez Segura; Carmen Guillén Ponce; Carmen Guillén Alonso; Teresa Ramón y Cajal; Raquel Serrano Blanch; Enrique Aranda
Journal:  Clin Transl Oncol       Date:  2010-05       Impact factor: 3.405

Review 3.  Colonic polyps in children and adolescents.

Authors:  C A Durno
Journal:  Can J Gastroenterol       Date:  2007-04       Impact factor: 3.522

4.  Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening.

Authors:  Caitlin E Lawson; Thomas M Attard; Hongying Dai; Seth Septer
Journal:  J Genet Couns       Date:  2016-12-03       Impact factor: 2.537

5.  Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Authors:  Christina Evers; Harald Gaspar; Matthias Kloor; Gergana Bozukova; Martina Kadmon; Monika Keller; Christian Sutter; Ute Moog
Journal:  Fam Cancer       Date:  2012-09       Impact factor: 2.375

6.  Hepatoblastoma: 15-year experience and role of surgical treatment.

Authors:  Suk-Bae Moon; Hyun-Baek Shin; Jeong-Meen Seo; Suk-Koo Lee
Journal:  J Korean Surg Soc       Date:  2011-08-03

Review 7.  Extra-intestinal manifestations of familial adenomatous polyposis.

Authors:  Emma J Groen; Annemieke Roos; Friso L Muntinghe; Roelien H Enting; Jakob de Vries; Jan H Kleibeuker; Max J H Witjes; Thera P Links; André P van Beek
Journal:  Ann Surg Oncol       Date:  2008-07-09       Impact factor: 5.344

Review 8.  Hepatoblastoma in molecularly defined, congenital diseases.

Authors:  Gunther Nussbaumer; Martin Benesch
Journal:  Am J Med Genet A       Date:  2022-04-28       Impact factor: 2.578

  8 in total

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