|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.
|
31781599 |
2019 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, tooth agenesis was associated with positive self-reported family history of cancer and with variants in AXIN2, FGF3, FGF10, and FGFR2.
|
23169889 |
2013 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops.
|
30671715 |
2019 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis.
|
15042511 |
2004 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Future studies should identify which specific tooth agenesis sub-phenotypes are consequence of AXIN2 genetic variations.
|
18790474 |
2009 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis.
|
29114927 |
2018 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The finding was reminiscent of a previously described family harboring an AXIN2 mutation which could be shown to segregate with both the tooth agenesis and the predisposition to colon cancer transmitted in this family.
|
24631698 |
2014 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using multi-temperature single-stranded conformational polymorphism and sequencing analysis, we identified three novel AXIN2 gene variants: c.956+16A > G, c.1060-17C > T and c.2062C > T. We also observed that individuals carrying the c.956+16G and c.2062T alleles exhibited an increased risk of tooth agenesis.
|
16432638 |
2006 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer).
|
18499550 |
2008 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes PAX9, MSX1 and AXIN2 have been determined to be associated with autosomal-dominant tooth agenesis.
|
18657636 |
2009 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes, PAX9, MSX1, and AXIN2, have been determined to be associated with autosomal dominant and recessive tooth agenesis.
|
21091672 |
2010 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
|
21416598 |
2011 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively.
|
23516639 |
2013 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.
|
30671715 |
2019 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An association between human cancer risk and a single nucleotide polymorphism (SNP) at codon 50 of the AXIN2 gene, encoding either proline (CCT) or serine (TCT), remains undefined.
|
16820935 |
2006 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The results suggest that polymorphic variants in AXIN2 and CDH1 may be associated with NSCL ± P susceptibility, and reinforce the putative link between cancer and oral clefts.
|
28376813 |
2017 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Similar with previous meta-analyses, our analysis indicated that Axin2 rs2240308 may modify cancer susceptibility in an ethnicity- and/or type-specific manner.
|
28043155 |
2019 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These findings indicate that AXIN2 rs2240308 polymorphism significantly and race-specifically correlates with decreased cancer risk.
|
25974148 |
2015 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genomic Identification of Significant Targets in Cancer analysis highlighted focal alterations, including gains at chromosomes 16q23.2 (MAF), 17q23 (AXIN2), and 8p12 (ADAM3A).
|
26352987 |
2015 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In conclusion, tooth agenesis was associated with positive self-reported family history of cancer and with variants in AXIN2, FGF3, FGF10, and FGFR2.
|
23169889 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
More than half of the tumors with heterozygote mutations in AXIN2 were concurrently mutated in APC.
|
15802015 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In the remaining 29 primary OEAs, unequivocal nuclear beta-catenin immunoreactivity was not observed, though a nonsense mutation in AXIN1 was observed in one tumor and a truncating frameshift mutation in AXIN2 was seen in another case.
|
11719457 |
2001 |