Literature DB >> 8929955

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

S Distante1, S Nasioulas, G R Somers, D J Cameron, M A Young, S M Forrest, R J Gardner.   

Abstract

A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8929955      PMCID： PMC1051844          DOI： 10.1136/jmg.33.2.157

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  32 in total

1.  Colon cancer in a 16-year-old girl.

Authors:  D M Eccles; D J Bunyan; J Needell; M Thompson
Journal:  Lancet       Date:  1995-06-24       Impact factor: 79.321

2.  The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

Authors:  A Clarke
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

3.  GIG response to the UK Clinical Genetics Society report "The genetic testing of children".

Authors:  S Dalby
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

4.  Familial adenomatous polyposis.

Authors:  J Burn; P D Chapman; E J Eastham
Journal:  Arch Dis Child       Date:  1994-08       Impact factor: 3.791

5.  Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Authors:  S A Gayther; D Wells; S B SenGupta; P Chapman; K Neale; K Tsioupra; J D Delhanty
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

6.  Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

Authors:  M Mandl; R Paffenholz; W Friedl; R Caspari; M Sengteller; P Propping
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

7.  APC mutation associated with late onset of familial adenomatous polyposis.

Authors:  J Smith-Ravin; K Pack; S Hodgson; S K Tay; R Phillips; W Bodmer
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

8.  The molecular basis of Turcot's syndrome.

Authors:  S R Hamilton; B Liu; R E Parsons; N Papadopoulos; J Jen; S M Powell; A J Krush; T Berk; Z Cohen; B Tetu
Journal:  N Engl J Med       Date:  1995-03-30       Impact factor: 91.245

9.  Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

Authors:  R Caspari; S Olschwang; W Friedl; M Mandl; C Boisson; T Böker; A Augustin; M Kadmon; G Möslein; G Thomas
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150

10.  Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations.

Authors:  S Presciuttini; L Varesco; P Sala; V Gismondi; C Rossetti; A Bafico; G B Ferrara; L Bertario
Journal:  Ann Hum Genet       Date:  1994-10       Impact factor: 1.670
View more
  10 in total

1.  The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis.

Authors:  Rony E Duncan; Lynn Gillam; Julian Savulescu; Robert Williamson; John G Rogers; Martin B Delatycki
Journal:  Fam Cancer       Date:  2009-09-17       Impact factor: 2.375

2.  An unusually severe phenotype for familial adenomatous polyposis.

Authors:  D M Eccles; P W Lunt; Y Wallis; M Griffiths; B Sandhu; S McKay; D Morton; J Shea-Simonds; F Macdonald
Journal:  Arch Dis Child       Date:  1997-11       Impact factor: 3.791

3.  Is colonoscopy necessary in children suspected of having colonic polyps?

Authors:  Hye Jin Lee; Ji Hyuk Lee; Jong Seung Lee; Yon Ho Choe
Journal:  Gut Liver       Date:  2010-09-24       Impact factor: 4.519

Review 4.  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 5.  Epidemiology and management options for colorectal cancer in children.

Authors:  Raya Saab; Wayne L Furman
Journal:  Paediatr Drugs       Date:  2008       Impact factor: 3.022

6.  Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer.

Authors:  Naohiro Tomita; Hideyuki Ishida; Kohji Tanakaya; Tatsuro Yamaguchi; Kensuke Kumamoto; Toshiaki Tanaka; Takao Hinoi; Yasuyuki Miyakura; Hirotoshi Hasegawa; Tetsuji Takayama; Hideki Ishikawa; Takeshi Nakajima; Akiko Chino; Hideki Shimodaira; Akira Hirasawa; Yoshiko Nakayama; Shigeki Sekine; Kazuo Tamura; Kiwamu Akagi; Yuko Kawasaki; Hirotoshi Kobayashi; Masami Arai; Michio Itabashi; Yojiro Hashiguchi; Kenichi Sugihara
Journal:  Int J Clin Oncol       Date:  2021-06-29       Impact factor: 3.402

7.  Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation.

Authors:  S Nasioulas; I T Jones; D J St John; R J Scott; S M Forrest; R J McKinlay Gardner
Journal:  Fam Cancer       Date:  2001       Impact factor: 2.375

8.  Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study.

Authors:  C Soravia; S L Sugg; T Berk; A Mitri; H Cheng; S Gallinger; Z Cohen; S L Asa; B V Bapat
Journal:  Am J Pathol       Date:  1999-01       Impact factor: 4.307

9.  Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.

Authors:  Mattias Schäfer; Martina Kadmon; Wolfgang Schmidt; Irmgard Treiber; Ute Moog; Christian Sutter; Maximilian Stehr
Journal:  European J Pediatr Surg Rep       Date:  2016-05-13

10.  Familial adenomatous polyposis of the colon.

Authors:  Andrzej Plawski; Tomasz Banasiewicz; Pawel Borun; Lukasz Kubaszewski; Piotr Krokowicz; Marzena Skrzypczak-Zielinska; Jan Lubinski
Journal:  Hered Cancer Clin Pract       Date:  2013-10-22       Impact factor: 2.857
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.