Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

Marie Luise Bisgaard; Rasmus Sejersten Ripa; Steffen Bülow

doi:10.1002/humu.9234

Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

Marie Luise Bisgaard, Rasmus Sejersten Ripa, Steffen Bülow

10 Citationer (Scopus)

Abstract

Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	23
Udgave nummer	5
Sider (fra-til)	522
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.9234
Status	Udgivet - maj 2004
Udgivet eksternt	Ja

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10.1002/humu.9234

Citationsformater

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title = "Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)",

abstract = "Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.",

keywords = "3' Flanking Region, Adenomatous Polyposis Coli, Adolescent, Adult, Aged, Child, DNA Mutational Analysis, Denmark, Female, Genes, APC, Germ-Line Mutation, Humans, Male, Middle Aged, Phenotype",

author = "Bisgaard, {Marie Luise} and Ripa, {Rasmus Sejersten} and Steffen B{\"u}low",

year = "2004",

month = may,

doi = "10.1002/humu.9234",

language = "English",

volume = "23",

pages = "522",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "JohnWiley & Sons, Inc.",

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TY - JOUR

T1 - Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

AU - Bisgaard, Marie Luise

AU - Ripa, Rasmus Sejersten

AU - Bülow, Steffen

PY - 2004/5

Y1 - 2004/5

N2 - Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.

AB - Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.

KW - 3' Flanking Region

KW - Adenomatous Polyposis Coli

KW - Adolescent

KW - Adult

KW - Aged

KW - Child

KW - DNA Mutational Analysis

KW - Denmark

KW - Female

KW - Genes, APC

KW - Germ-Line Mutation

KW - Humans

KW - Male

KW - Middle Aged

KW - Phenotype

U2 - 10.1002/humu.9234

DO - 10.1002/humu.9234

M3 - Journal article

C2 - 15108286

SN - 1059-7794

VL - 23

SP - 522

JO - Human Mutation

JF - Human Mutation

IS - 5

ER -

Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

Abstract

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