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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
SA. Schubert, D. Ruano, FA. Elsayed, A. Boot, S. Crobach, AF. Sarasqueta, B. Wolffenbuttel, MM. van der Klauw, J. Oosting, CM. Tops, R. van Eijk, HF. Vasen, RH. Vossen, M. Nielsen, S. Castellví-Bel, C. Ruiz-Ponte, I. Tomlinson, MG. Dunlop, P....
Language English Country England, Great Britain
Document type Journal Article
NLK
Free Medical Journals
from 1947 to 1 year ago
Freely Accessible Journals
from 1947 to 1 year ago
PubMed Central
from 1947 to 1 year ago
Europe PubMed Central
from 1947 to 1 year ago
ProQuest Central
from 2000-01-01 to 1 year ago
Open Access Digital Library
from 1947-01-01
Open Access Digital Library
from 1999-01-01
Nursing & Allied Health Database (ProQuest)
from 2000-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Public Health Database (ProQuest)
from 2000-01-01 to 1 year ago
PubMed
28742792
DOI
10.1038/bjc.2017.240
Knihovny.cz E-resources
- MeSH
- Adenomatous Polyposis Coli genetics MeSH
- Genetic Predisposition to Disease * MeSH
- Genetic Linkage MeSH
- Genotype MeSH
- Homozygote MeSH
- Polymorphism, Single Nucleotide MeSH
- Colorectal Neoplasms genetics MeSH
- Humans MeSH
- Chromosomes, Human, Pair 1 genetics MeSH
- Chromosome Mapping MeSH
- RNA, Messenger metabolism MeSH
- Microsatellite Repeats MeSH
- Neoplasm Proteins genetics metabolism MeSH
- Precancerous Conditions genetics metabolism MeSH
- GTPase-Activating Proteins genetics metabolism MeSH
- Aryl Hydrocarbon Receptor Nuclear Translocator genetics metabolism MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
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. METHODS: 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. RESULTS: 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. CONCLUSIONS: Taken together, our two independent strategies associate genetic variations in chromosome 1q loci and predisposition to familial CRC and polyps, which warrants further investigation.
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