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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10189559

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FJ - Chirurgie včetně transplantologie

OECD FORD obor

—

Projekt

—

Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Familial Cancer

ISSN

1389-9600

e-ISSN

—

Svazek periodika

12

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

8

Strana od-do

35-42

Kód UT WoS článku

000314408700004

EID výsledku v databázi Scopus

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