DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F20%3A00518088" target="_blank" >RIV/68378041:_____/20:00518088 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/20:10396555 RIV/00216208:11140/20:10396555
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32516" target="_blank" >https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32516</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ijc.32516" target="_blank" >10.1002/ijc.32516</a>
Alternative languages
Result language
angličtina
Original language name
DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility
Original language description
Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cancer. To better ascertain the role of DNA repair gene polymorphisms on colon and rectal cancer risk individually, we evaluated 15,419 single nucleotide polymorphisms (SNPs) within 185 DNA repair genes using GWAS data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), which included 8,178 colon cancer, 2,936 rectum cancer cases and 14,659 controls. Rs1800734 (in MLH1 gene) was associated with colon cancer risk (p-value = 3.5 x 10(-6)) and rs2189517 (in RAD51B) with rectal cancer risk (p-value = 5.7 x 10(-6)). The results had statistical significance close to the Bonferroni corrected p-value of 5.8 x 10(-6). Ninety-four SNPs were significantly associated with colorectal cancer risk after Binomial Sequential Goodness of Fit (BSGoF) procedure and confirmed the relevance of DNA mismatch repair (MMR) and homologous recombination pathways for colon and rectum cancer, respectively. Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. Other SNPs associated with the risk of colon cancer (e.g., rs16906252 in MGMT) were found to affect mRNA expression levels in colon transverse and therefore working as possible cis-eQTL suggesting possible mechanisms of carcinogenesis.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30302 - Epidemiology
Result continuities
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
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Cancer
ISSN
0020-7136
e-ISSN
—
Volume of the periodical
146
Issue of the periodical within the volume
2
Country of publishing house
DE - GERMANY
Number of pages
10
Pages from-to
363-372
UT code for WoS article
000498734300006
EID of the result in the Scopus database
2-s2.0-85068514355