Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10189559" target="_blank" >RIV/00216208:11110/13:10189559 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/13:10189559

Result on the web

<a href="http://dx.doi.org/10.1007/s10689-012-9569-8" target="_blank" >http://dx.doi.org/10.1007/s10689-012-9569-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10689-012-9569-8" target="_blank" >10.1007/s10689-012-9569-8</a>

Result language

angličtina

Original language name

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families

Original language description

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with almost 100 % risk of colorectal cancer. The typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by extracolonic manifestations, later onsetand lower number of polyps in colon is characteristic of an attenuated form (AFAP). We analyzed the APC gene for germline mutations in 90 FAP/AFAP patients. Mutation screening was performed using Denaturing Gradient Gel Electrophoresis. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. APC-mutation-negative probands were screened for large deletions of the APC gene using multiplex ligation dependent probe amplification. Analysis of mRNA variants followed in probands withpossible splicing mutation by PCR amplification of target site flanking exons and sequencing the normal and aberrant products. We identified 30 germline variants among 36 unrelated probands including large deletions. Eleven APC variants

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FJ - Surgery including transplantology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Familial Cancer

ISSN

1389-9600

e-ISSN

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Volume of the periodical

12

Issue of the periodical within the volume

1

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

8

Pages from-to

35-42

UT code for WoS article

000314408700004

EID of the result in the Scopus database

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