|
rs459552
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222-rs222836) were associated with decreased risk of CRC, while the G-T haplotype in the DVL2 gene was associated with increased CRC risk.
|
31723073 |
2019 |
|
rs459552
|
|
|
0.070 |
GeneticVariation |
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 |
|
rs11954856
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222-rs222836) were associated with decreased risk of CRC, while the G-T haplotype in the DVL2 gene was associated with increased CRC risk.
|
31723073 |
2019 |
|
rs454886
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs142637152
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biallelic mutations in MUTYH gene were detected in 3/12 (25%) remaining subjects with polyposis and in 6/90 (6.7%) patients with colorectal cancer (CRC) carrying KRAS p.G12C substitution, but not in 231 early-onset CRC cases negative for KRAS p.G12C allele.
|
29406563 |
2018 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH).
|
27978560 |
2017 |
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH).
|
27978560 |
2017 |
|
rs777980327
|
|
|
0.040 |
GeneticVariation |
BEFREE |
BRAF was mutated in 7.6% (484 of 6353) of colorectal cancer and 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% (3 of 29) of BRAF-mutated cases.
|
28617917 |
2017 |
|
rs11954856
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found that rs11954856 in the <i>APC</i> gene was associated with colorectal cancer and could increase the expression levels of <i>APC</i>, <i>β-catenin</i>, <i>TCF7L1</i>, <i>TCF7L2</i> and <i>LEF1</i> genes in the pathway in the CRC patients, demonstrating the involvement of APC in the pathological processes leading to CRC.
|
29050326 |
2017 |
|
rs41116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight miRSNPs (rs1804191, rs397768, rs41116 in APC; rs1137918, s227091, rs4585 in ATM; rs712, rs1137282, rs61764370 in KRAS; rs8674 in PARP1 and rs16950113 in SMAD7) were tested for their association with CRC risk in a case-control study (1111 cases and 1469 healthy controls).
|
29048575 |
2017 |
|
rs1801166
|
|
|
0.100 |
GeneticVariation |
BEFREE |
While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy.
|
26863316 |
2016 |
|
rs79896135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This allele significantly decreased the luciferase reporter's activity CONCLUSION: Our results indicate that many SNPs in APC promoters 1A and 1B are functionally relevant and that allele G of rs79896135 may be associated with the predisposition to colorectal cancer.
|
28105931 |
2016 |
|
rs777980327
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups.
|
26216840 |
2015 |
|
rs1268298845
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma.
|
24518836 |
2014 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An association between a missense mutation, APC I1307K, and the risk of sporadic colorectal cancer (CRC) has been reported.
|
22180177 |
2012 |
|
rs62619935
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An association between a missense mutation, APC I1307K, and the risk of sporadic colorectal cancer (CRC) has been reported.
|
22180177 |
2012 |
|
rs137854580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs1488176769
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs777980327
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Activating V600E mutation in BRAF gene has been linked with widespread methylation of CpG islands in sporadic colorectal cancers.
|
21455633 |
2011 |
|
rs777980327
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans.
|
19190129 |
2009 |
|
rs1801166
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors.
|
18375958 |
2008 |
|
rs1801166
|
|
|
0.100 |
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 |