|
Oligodontia-Colorectal Cancer Syndrome
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in the Wnt pathway component gene AXIN2 have been associated with tooth agenesis-colorectal cancer syndrome.
|
16941501 |
2006 |
|
Oligodontia-Colorectal Cancer Syndrome
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
|
15042511 |
2004 |
|
Oligodontia-Colorectal Cancer Syndrome
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
|
21416598 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the AXIN2 Pro50Ser SNP is associated with development of lung cancer as a protective SNP, while an association between the AXIN2 SNP and risk of colorectal cancer and of head and neck cancer was not observed.
|
16820935 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
|
15042511 |
2004 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest the AXIN2 1989G>A mutation may not have solely a loss-of-function role in CRC.
|
26025668 |
2015 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate the possibility that variations in the AXIN2 gene may play a significant role in promoting or preventing CRC development.
|
27228364 |
2016 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whereas in CIN CRCs APC (Adenomatous Polyposis Coli) is affected in most cases, high grade MSI (MSI-H) CRCs frequently display mutations in various genes, like the APC-, AXIN2- or CTNNBI (beta-CATENIN) gene itself.
|
20696052 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although Axin 1 and Axin 2 gene mutations have been found to be involved in the development of colorectal cancers, it seems to be a relatively rare event in Kashmiri population.
|
21541676 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To assess the contribution of Axin2 SNP to CRC susceptibility, we examined the Axin2 C148T genotype in CRC patients and 170 healthy controls by PCR-RFLP.
|
22207181 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T).
|
31723073 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AXIN2 and MUTYH genes were screened for germline mutations by PCR and direct sequencing in 39 unrelated patients with multiple adenomas or colorectal cancer without evidence of APC mutation nor mismatch repair defect.
|
16941501 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
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 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied thirteen single nucleotide polymorphisms (SNPs) located in SFRP3 (rs7775), CTNNB1 (β-catenin) [rs4135385, rs13072632], APC (rs454886, rs459552), LRP6 (rs2075241, rs2284396), DKK4 (rs3763511), DKK3 (rs6485350), TCF4 (rs12255372) and AXIN2 (rs3923086, rs3923087, rs4791171) in patients with colorectal cancer (n = 122) and controls (n = 110).
|
31485167 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have previously isolated the human homolog (AXIN2) of the murine conductin gene and shown that it is mutated in colorectal cancer (CRC) with defective mismatch repair (MMR).
|
11474173 |
2001 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in PAX9, MSX1 and AXIN2 genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far.
|
16918677 |
2006 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
|
21416598 |
2011 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The findings suggest that the c.956+16A>G, c.1365A>G and c.1200+71A>G mutations of AXIN2 may be responsible for the oligodontia phenotype in this family, but these findings require further study.
|
25377791 |
2015 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia.
|
31781599 |
2019 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous).
|
30671715 |
2019 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
|
24581859 |
2014 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.
|
21530942 |
2011 |