|
rs11954856
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs1179254201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT.
|
26394139 |
2015 |
|
rs1182822563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT.
|
26394139 |
2015 |
|
rs1331131200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT.
|
26394139 |
2015 |
|
rs374853436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis.
|
26161710 |
2015 |
|
rs751945983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT.
|
26394139 |
2015 |
|
rs876659661
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
|
rs1816769
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Survival tree analysis identified a higher-order genetic interaction profile consisting of the APC rs565453, CTNNB1 2293303, and APC rs1816769 that was significantly associated with overall survival.
|
23405266 |
2013 |
|
rs559510809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
|
22449158 |
2012 |
|
rs2229992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India.
|
21279955 |
2011 |
|
rs3846716
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first report documenting the potential prognostic role of the APC rs3846716 GA/AA genotype on PSA recurrence after RP.
|
19777185 |
2010 |
|
rs41115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four tSNPs (rs3846716, rs2431238, rs41115, and rs565453) and a specific haplotype (GTAAGA) in the APC tumor suppressor gene were associated with a 0.57- to 0.71-fold lower risk of localized PCa.
|
19777185 |
2010 |
|
rs150973053
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27).
|
18612690 |
2008 |
|
rs454886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, rs454886 in the APC tumor suppressor gene was associated with increased breast cancer risk (per allele odds ratio, 1.23; 95% confidence intervals, 1.05-1.43; P(trend) = 0.01).
|
18708403 |
2008 |
|
rs730882128
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
2008 |
|
rs749782426
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
2008 |
|
rs753314927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings strongly support a pathogenic role of the APC N1026S variant in the AFAP phenotype, reinforcing the importance of functional characterization of APC variants for genetic counseling.
|
18166348 |
2008 |
|
rs773985321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).
|
17696956 |
2007 |
|
rs777980327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored.
|
17293392 |
2007 |
|
rs465899
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed three single-nucleotide polymorphisms (SNPs) (rs2229992, rs42427, rs465899) at the exon region of APC.
|
15768050 |
2005 |
|
rs587780607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
rs770649674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
rs773952596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this detection system, three novel germline mutations in familial adenomatous polyposis (FAP) patients were identified, i.e. a Gly101 Ter non-sense mutation in exon 3, an exon 4 splice acceptor mutation and a 555delC deletion in exon 5.
|
9664575 |
1998 |
|
rs863225335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this detection system, three novel germline mutations in familial adenomatous polyposis (FAP) patients were identified, i.e. a Gly101 Ter non-sense mutation in exon 3, an exon 4 splice acceptor mutation and a 555delC deletion in exon 5.
|
9664575 |
1998 |
|
rs587782868
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP.
|
18425378 |
2008 |