Literature DB >> 7853377

APC mutation associated with late onset of familial adenomatous polyposis.

J Smith-Ravin1, K Pack, S Hodgson, S K Tay, R Phillips, W Bodmer.   

Abstract

Familial adenomatous polyposis is an autosomal dominantly inherited disorder. Mutation studies in the corresponding gene (APC) may provide information for predictive tests for persons at risk in affected families. We report here a new mutation in exon 6 (codon 233) of the APC gene and clinical data in a large family with late onset of the disease in most affected persons.

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Year:  1994        PMID： 7853377      PMCID： PMC1016666          DOI： 10.1136/jmg.31.11.888

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


  13 in total

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Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

2.  Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

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Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

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Authors:  G Joslyn; D S Richardson; R White; T Alber
Journal:  Proc Natl Acad Sci U S A       Date:  1993-12-01       Impact factor: 11.205

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Journal:  Cell       Date:  1991-08-09       Impact factor: 41.582

6.  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

7.  Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

Authors:  J Groden; L Gelbert; A Thliveris; L Nelson; M Robertson; G Joslyn; W Samowitz; L Spirio; M Carlson; R Burt
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

8.  The APC gene product in normal and tumor cells.

Authors:  K J Smith; K A Johnson; T M Bryan; D E Hill; S Markowitz; J K Willson; C Paraskeva; G M Petersen; S R Hamilton; B Vogelstein
Journal:  Proc Natl Acad Sci U S A       Date:  1993-04-01       Impact factor: 11.205

Review 9.  Mutations of the APC (adenomatous polyposis coli) gene.

Authors:  H Nagase; Y Nakamura
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

10.  The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system.

Authors:  A R Moser; W F Dove; K A Roth; J I Gordon
Journal:  J Cell Biol       Date:  1992-03       Impact factor: 10.539
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  8 in total

Review 1.  [Preventive surgery for familial adenomatous polyposis coli].

Authors:  M Kadmon
Journal:  Chirurg       Date:  2005-12       Impact factor: 0.955

2.  Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Authors:  C Soravia; T Berk; L Madlensky; A Mitri; H Cheng; S Gallinger; Z Cohen; B Bapat
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  The mutation rate and cancer.

Authors:  A L Jackson; L A Loeb
Journal:  Genetics       Date:  1998-04       Impact factor: 4.562

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

Authors:  S Distante; S Nasioulas; G R Somers; D J Cameron; M A Young; S M Forrest; R J Gardner
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

5.  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

6.  APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

Authors:  R B van der Luijt; H F Vasen; C M Tops; C Breukel; R Fodde; P Meera Khan
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

7.  Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Authors:  D J Bunyan; J Shea-Simonds; A C Reck; D Finnis; D M Eccles
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

Review 8.  Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update.

Authors:  Hiroyuki Aihara; Nitin Kumar; Christopher C Thompson
Journal:  Eur J Gastroenterol Hepatol       Date:  2014-03       Impact factor: 2.566
  8 in total

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