|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs2229995
|
|
|
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 |
|
rs121913331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The nonsense mutation Arg1114X in APC gene was found in five of 43 CRC tumor tissues.
|
17653897 |
2007 |
|
rs530670052
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.
|
15449173 |
2004 |
|
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 |
|
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 |
|
rs587782868
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC.
|
15987719 |
2005 |
|
rs587782868
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328).
|
15236166 |
2004 |
|
rs770649674
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC.
|
15987719 |
2005 |
|
rs770649674
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328).
|
15236166 |
2004 |
|
rs770649674
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote.
|
12393807 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |