Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7119" target="_blank" >RIV/00064203:_____/11:7119 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:7119
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21901162" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21901162</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients
Original language description
The Czech Republic has one of the highest incidences of colorectal cancer (CRC) in Europe. To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH) at the APC locus, microsatellite instability (MSI), and methylation of the MLH1 promoter) in 103 tumours from 102 individuals. The most frequently mutated gene was APC (68.9% of tumours), followed by KRAS(31.1%), TP53 (27.2%), BRAF (8.7%) and CTNNB1 (1.9%). Heterozygous germline MUTYH mutations in 2 patients were unlikely to contribute to the development of their CRCs. LOH at the APC locus was found in 34.3% of tumours, MSI in 24.3% and MLH1 methylationin 12.7%. Seven tumours (6.9%) were without any changes in the genes tested. The analysis yielded several findings possibly specific for the Czech cohort. Somatic APC mutations did not cluster in the mutation cluster region (MCR). Tumours
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PLoS One
ISSN
1932-6203
e-ISSN
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Volume of the periodical
6
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
1-9
UT code for WoS article
000294298000047
EID of the result in the Scopus database
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