Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F17%3A00476876" target="_blank" >RIV/68378041:_____/17:00476876 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1038/bjc.2017.240" target="_blank" >http://dx.doi.org/10.1038/bjc.2017.240</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/bjc.2017.240" target="_blank" >10.1038/bjc.2017.240</a>
Alternative languages
Result language
angličtina
Original language name
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Original language description
Background: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders. nnMethods: Homozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls. Gene expression was assessed at the mRNA and protein level. nnResults: Homozygosity mapping revealed a disease-associated region at 1q32.3 which was part of the linkage region 1q32.2-42.2 identified in the CRC family. This includes a region previously associated with risk of CRC. Sequencing identified the p.Asp1432Glu variant in the MIA3 gene ( known as TANGO1 or TANGO) and 472 additional rare, shared variants within the linkage region. In both cases and controls the population frequency was 0.02% for this MIA3 variant. The MIA3 mutant allele showed predominant mRNA expression in normal, cancer and precancerous tissues. Furthermore, immunohistochemistry revealed increased expression of MIA3 in adenomatous tissues. nnConclusions: Taken together, our two independent strategies associate genetic variations in chromosome 1q loci and predisposition to familial CRC and polyps, which warrants further investigation.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/LD14050" target="_blank" >LD14050: Genetic and functional determinants of colorectal cancer and prospects to individualised therapy.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
British Journal of Cancer
ISSN
0007-0920
e-ISSN
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Volume of the periodical
117
Issue of the periodical within the volume
8
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
1215-1223
UT code for WoS article
000412648600015
EID of the result in the Scopus database
2-s2.0-85028836164