(Q54493225)

30 May 2018

title

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. (English)

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30 May 2018

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5

Joris Robert Vermeesch

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30 May 2018

author name string

Geneviève Michils

1

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30 May 2018

Sabine Tejpar

2

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30 May 2018

Reinhilde Thoelen

3

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30 May 2018

Eric van Cutsem

4

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30 May 2018

Jean-Pierre Fryns

6

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30 May 2018

Eric Legius

7

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30 May 2018

Gert Matthijs

8

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30 May 2018

publication date

1 February 2005

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30 May 2018

published in

Human Mutation

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30 May 2018

volume

25

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30 May 2018

page(s)

125-134

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30 May 2018

issue

2

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30 May 2018

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

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Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion

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Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

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Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.

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An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations

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Standardizing mutation nomenclature: why bother?

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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

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Mosaicism and sporadic familial adenomatous polyposis

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Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

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

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Identification and characterization of the familial adenomatous polyposis coli gene

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Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

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Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease

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Identification of deletion mutations and three new genes at the familial polyposis locus

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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

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

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Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

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Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

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Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

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Genotype-phenotype correlations in attenuated adenomatous polyposis coli

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

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Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

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Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

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Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations

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7 January 2021

Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC

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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

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7 January 2021

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20122

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30 May 2018

PubMed ID

15643602

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30 May 2018