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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/68378041:_____/14:00430205 RIV/00064165:_____/14:10284384

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

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

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Cancer Causes and Control

ISSN

0957-5243

e-ISSN

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Svazek periodika

25

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

11

Strana od-do

759-769

Kód UT WoS článku

000336023600011

EID výsledku v databázi Scopus

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