Literature DB >> 8244107

Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.

D G Evans1, S P Guy, N Thakker, J G Armstrong, C Dodd, D R Davies, C Babbs, T Clancy, T Warnes, P Sloan.   

Abstract

One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the absence of a specific DNA predictive test, bowel screening should continue well beyond 30 years of age.

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Year:  1993        PMID： 8244107      PMCID： PMC1374547          DOI： 10.1136/gut.34.10.1389

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


  16 in total

1.  Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study.

Authors:  F MacDonald; D G Morton; P M Rindl; J Haydon; R Cullen; J Gibson; J P Neoptolemos; M R Keighley; C M McKeown; M Hultén
Journal:  BMJ       Date:  1992-04-04

2.  Risk estimation in familial adenomatous polyposis using DNA probes linked to the familial adenomatous polyposis gene.

Authors:  D J Koorey; G W McCaughan; R J Trent; N D Gallagher
Journal:  Gut       Date:  1992-04       Impact factor: 23.059

3.  Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Authors:  Y Miyoshi; H Ando; H Nagase; I Nishisho; A Horii; Y Miki; T Mori; J Utsunomiya; S Baba; G Petersen
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

4.  Related disease--related cause?

Authors:  D P Burkitt
Journal:  Lancet       Date:  1969-12-06       Impact factor: 79.321

5.  Some genetic aspects of familial multiple polyposis of the colon in a kindred of 1,422 members.

Authors:  E R Pierce
Journal:  Dis Colon Rectum       Date:  1968 Sep-Oct       Impact factor: 4.585

6.  Identification and characterization of the familial adenomatous polyposis coli gene.

Authors:  J Groden; A Thliveris; W Samowitz; M Carlson; L Gelbert; H Albertsen; G Joslyn; J Stevens; L Spirio; M Robertson
Journal:  Cell       Date:  1991-08-09       Impact factor: 41.582

7.  Identification of FAP locus genes from chromosome 5q21.

Authors:  K W Kinzler; M C Nilbert; L K Su; B Vogelstein; T M Bryan; D B Levy; K J Smith; A C Preisinger; P Hedge; D McKechnie
Journal:  Science       Date:  1991-08-09       Impact factor: 47.728

8.  Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

Authors:  I Nishisho; Y Nakamura; Y Miyoshi; Y Miki; H Ando; A Horii; K Koyama; J Utsunomiya; S Baba; P Hedge
Journal:  Science       Date:  1991-08-09       Impact factor: 47.728

9.  The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.

Authors:  J Burn; P Chapman; J Delhanty; C Wood; F Lalloo; M B Cachon-Gonzalez; K Tsioupra; W Church; M Rhodes; A Gunn
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

10.  A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene.

Authors:  L Spirio; G Joslyn; L Nelson; M Leppert; R White
Journal:  Nucleic Acids Res       Date:  1991-11-25       Impact factor: 16.971
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  9 in total

1.  Uptake of genetic testing for cancer predisposition.

Authors:  D G Evans; E R Maher; R Macleod; D R Davies; D Craufurd
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.

Authors:  W Friedl; S Meuschel; R Caspari; C Lamberti; S Krieger; M Sengteller; P Propping
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 3.  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 4.  Gastroenterology--II: Small and large bowel, pancreas and biliary system.

Authors:  M C Bateson
Journal:  Postgrad Med J       Date:  1994-09       Impact factor: 2.401

5.  Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

Authors:  P Rozen; Z Samuel; R Shomrat; C Legum
Journal:  Gut       Date:  1999-12       Impact factor: 23.059

6.  Screening by genomic linkage studies and mutation analysis of hereditary adenomatous polyposis coli: usefulness for clinical practice.

Authors:  J Karner-Hanusch; B Wolf; M Zehetmayer; F Wrba; E Roth; C Mannhalter
Journal:  World J Surg       Date:  1996-06       Impact factor: 3.352

Review 7.  Basic concepts for genetic testing in common hereditary colorectal cancer syndromes.

Authors:  Kristina Markey; Lisen Axel; Dennis Ahnen
Journal:  Curr Gastroenterol Rep       Date:  2002-10

8.  The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs.

Authors:  N Thakker; R Davies; K Horner; J Armstrong; T Clancy; S Guy; R Harris; P Sloan; G Evans
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

9.  An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.

Authors:  Qitao Zhan; Liya Wang; Xiangrong Xu; Yan Sun; Lejun Li; Xuchen Qi; Feng Chen; Xiaoming Wei; Michael L Raff; Ping Yu; Fan Jin
Journal:  Front Genet       Date:  2020-03-04       Impact factor: 4.599
  9 in total

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