Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families (Q35363025)

7 August 2017

title

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families (English)

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7 August 2017

Friedl W

1

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7 August 2017

Caspari R

2

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7 August 2017

Sengteller M

3

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7 August 2017

Uhlhaas S

4

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7 August 2017

Lamberti C

5

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7 August 2017

Jungck M

6

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7 August 2017

Kadmon M

7

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7 August 2017

Wolf M

8

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7 August 2017

Fahnenstich J

9

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7 August 2017

Gebert J

10

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7 August 2017

Möslein G

11

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7 August 2017

Mangold E

12

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7 August 2017

Propping P

13

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7 August 2017

language of work or name

English

0 references

publication date

1 April 2001

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7 August 2017

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7 August 2017

volume

48

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7 August 2017

issue

4

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7 August 2017

page(s)

515-521

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beta-catenin signaling and cancer

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

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

12 July 2018

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Management of duodenal adenomas in 98 patients with familial adenomatous polyposis

12 July 2018

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Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

12 July 2018

1 reference

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Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

12 July 2018

1 reference

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Genotype-phenotype correlations in attenuated adenomatous polyposis coli

12 July 2018

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Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

12 July 2018

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Desmoids in familial adenomatous polyposis

12 July 2018

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Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

12 July 2018

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Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene

12 July 2018

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Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

12 July 2018

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Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene.

12 July 2018

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Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients

12 July 2018

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

12 July 2018

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

12 July 2018

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Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

12 July 2018

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Alleles of the APC gene: an attenuated form of familial polyposis

12 July 2018

1 reference

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

12 July 2018

1 reference

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Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

12 July 2018

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Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes

12 July 2018

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Mutation and cancer: statistical study of retinoblastoma

12 July 2018

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Clinical features in familial polyposis coli. Results of the Danish Polyposis Register.

12 July 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

12 July 2018

1 reference

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Identification of FAP locus genes from chromosome 5q21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

Identification and characterization of the familial adenomatous polyposis coli gene

12 July 2018

1 reference

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Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

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

12 July 2018

1 reference

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The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

26 September 2018

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Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728231

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation

26 September 2018

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12 December 2020

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

1 reference

12 December 2020

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

1 reference

12 December 2020

The use and interpretation of commercial APC gene testing for familial adenomatous polyposis

1 reference

12 December 2020

Molecular genetic tests in surgical management of familial adenomatous polyposis

1 reference

12 December 2020

Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations

1 reference

12 December 2020

Molecular genetic tests in surgical management of familial adenomatous polyposis

1 reference

12 December 2020

Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps

1 reference

12 December 2020

Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.48.4.515

1 reference

7 August 2017

1 reference

7 August 2017

1 reference