Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10284384" target="_blank" >RIV/00216208:11110/14:10284384 - isvavai.cz</a>
Alternative codes found
RIV/68378041:_____/14:00430205 RIV/00064165:_____/14:10284384
Result on the web
<a href="http://dx.doi.org/10.1007/s10552-014-0379-1" target="_blank" >http://dx.doi.org/10.1007/s10552-014-0379-1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10552-014-0379-1" target="_blank" >10.1007/s10552-014-0379-1</a>

Result language
angličtina
Original language name
Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors
Original language description
The first two studies aiming for the high-throughput identification of the somatic mutation spectrum of colorectal cancer (CRC) tumors were published in 2006 and 2007. Using exome sequencing, they described 69 and 140 candidate cancer genes (CAN genes),respectively. We hypothesized that germline variants in these genes may influence CRC risk, similar to APC, which is causing CRC through germline and somatic mutations. After excluding the well-established CRC genes APC, KRAS, TP53, and ABCA1, we analyzed 35 potentially functional single-nucleotide polymorphisms (SNPs) in 10 CAN genes (OBSCN, MLL3, PKHD1, SYNE1, ERCC6, FBXW7, EPHB6/TRPV6, ELAC1/SMAD4, EPHA3, and ADAMTSL3) using KBiosciences Competitive AlleleaEuroSpecific PCR (TM) genotyping assays. Inaddition to CRC risk (1,399 CRC cases, 838 controls), we also considered the influence of the SNPs on patients' survival (406 cases). In spite of the fact that our in silico analyses suggested functional relevance for the studied genes an
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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