|
rs1801155
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers.
|
17854661 |
2007 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Investigation of the effect of the MTHFR C677T polymorphism in this large UKFSS study revealed no overall association on adenoma risk (P>0.05).
|
16783607 |
2006 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Almost all of seven studies of colorectal adenoma have found no association between C677T polymorphism and adenoma, but the 677TT genotype seems to be related to increased risk when folate status is poor.
|
16128738 |
2005 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Among 379 cases and 726 controls, MTHFR genotypes were not appreciably related to risk of adenoma, but a suggestive interaction (P = 0.09) was observed between MTHFR 677C-->T and alcohol intake; men with TT homozygotes who consumed 30+ g/day of alcohol had an odds ratio (OR) of 3.52 [95% confidence interval (CI), 1.41-8.78] relative to drinkers of < or =5 g/day with the CC/CT genotypes.
|
14578131 |
2003 |
|
rs1801155
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium.
|
12533826 |
2003 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Smoking, folate status and the C677T MTHFR polymorphism were strong, interactive determinants of high-risk adenomas (HRAs, defined as adenomas > or =10 mm in diameter, adenomas with villous components or with severe dysplasia).
|
11424140 |
2001 |
|
rs1801155
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The high frequency of I1307K colorectal cancer patients found in the Ashkenazi Jewish community of Ottawa and the equivalent proportion of carriers and noncarriers who developed adenomatous polyps suggest that in this community, I1307K is associated with a significant predisposition to carcinoma but not adenoma.
|
11159880 |
2001 |
|
rs1801155
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis.
|
9973276 |
1999 |
|
rs1463038513
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers.
|
17854661 |
2007 |
|
rs1463038513
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium.
|
12533826 |
2003 |
|
rs1463038513
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The high frequency of I1307K colorectal cancer patients found in the Ashkenazi Jewish community of Ottawa and the equivalent proportion of carriers and noncarriers who developed adenomatous polyps suggest that in this community, I1307K is associated with a significant predisposition to carcinoma but not adenoma.
|
11159880 |
2001 |
|
rs1463038513
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis.
|
9973276 |
1999 |
|
rs6983267
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Stratified analysis by histological lesion revealed the association of rs10505477 and rs6983267 variants with reduced risk of low- and high-risk adenomas in controls, being this effect stronger in low-risk adenomas (log-additive models, OR:0.63, 95%CI:0.47-0.84 and OR:0.64, 95%CI:0.47-0.86, respectively).
|
30194776 |
2019 |
|
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation.
|
28405879 |
2017 |
|
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One APA carried a newly identified p.His88Asp variant, whereas in a second case, a p.Leu206Arg mutation was found, previously described only in cortisol-producing adenomas with overt Cushing's syndrome.
|
27270477 |
2016 |
|
rs34612342
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A multivariable model showed positive correlation between G396D, Y179C and 1186 ins GG mutations and number of adenomas (OR 8.6, 10.2 and 14.4, respectively).
|
25822476 |
2015 |
|
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The hyperplastic gland showed a PRKACA(L206R) mutation, while patients with bilateral adenomas did not have known somatic mutations.
|
25750087 |
2015 |
|
rs6983267
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation.
|
24801760 |
2015 |
|
rs34612342
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two MUTYH mutations, G396D and Y179C, were studied in 1,413 individuals, with MUTYH sequence analysis in 46 cases with CRC in a sibling or adenoma.
|
22371070 |
2012 |
|
rs121912532
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although several LHR mutations have been reported in testotoxicosis, the D578H-LHR mutation, which has been found only as a somatic mutation, appears up until now to be specifically responsible for Leydig cell adenomas.
|
21490077 |
2011 |
|
rs34612342
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties.
|
19672709 |
2010 |
|
rs6983267
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The strength of the association of the regional haplotype containin</span>g variant alleles at rs10808555, rs6983267</span> and rs7837328 but not rs10505476 was greater than that of any single variant of both adenoma (OR = 1.27, P = 0.0001) and cancer (OR = 1.26, P = 0.03).
|
18535017 |
2008 |
|
rs121912532
|
|
|
0.030 |
GeneticVariation |
BEFREE |
the somatic activating mutation (Asp578His) of the luteinising hormone receptor gene is not only present in Leydig cell adenomas, but can also be found in nodular Leydig cell hyperplasia.
|
12447668 |
2002 |
|
rs121912532
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
rs1205
|
|
|
0.020 |
GeneticVariation |
BEFREE |
At rs1205 in CRP, T (minor allele) carriers had a higher risk (OR 1.67, 95%CI 1.07-2.60; reference: CC) of adenomas overall and adenomas with aggressive characteristics.
|
29802748 |
2018 |