|
rs6471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected heterozygous germline mutations (exon 7, Val 281Leu) in two patients, one with a cortisol-producing adenoma and the other with an androgen-secreting adrenocortical carcinoma.
|
9661649 |
1998 |
|
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, 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 |
|
rs55819519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis disclosed allelic loss in one, and a point mutation (R290H) and a polymorphism (L257 L) in another of the two other adenomas with diffuse nuclear pleomorphism.
|
10571817 |
1999 |
|
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 |
|
rs121912535
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1801166
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95% CI 0.09-18.0).
|
12537656 |
2002 |
|
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 |
|
rs1801166
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, and 86 with < or =3 lifetime ade</span>nomas), and 679 controls (362 spouses and 317 patients with normal colonoscopy) were screened for the APC E1317Q variant.
|
14578138 |
2003 |
|
rs3842787
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whereas there was no appreciable difference in adenoma or hyperplastic polyp risk associated with R8W, P17L, and L237M, an increased risk was observed for individuals heterozygous for the L15-L16del polymorphism (OR = 3.6, 95% CI 1.2-11.2).
|
15159324 |
2004 |
|
rs5789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whereas there was no appreciable difference in adenoma or hyperplastic polyp risk associated with R8W, P17L, and L237M, an increased risk was observed for individuals heterozygous for the L15-L16del polymorphism (OR = 3.6, 95% CI 1.2-11.2).
|
15159324 |
2004 |
|
rs1799945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC).
|
15668490 |
2005 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC).
|
15668490 |
2005 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
High omega-6/omega-3 polyunsaturated fatty acid ratios were associated with adenoma risk among subjects with the XRCC1 codon 194 Arg/Arg and codon 399 Gln/Gln or the codon 194 Arg/Trp or Trp/Trp and codon 399 Arg/Arg or Arg/Gln combined genotypes (P for interaction = 0.026).
|
15767338 |
2005 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriers of the variant allele OGG1 Ser326Cys polymorphism had a lowered risk of colorectal cancer, OR=0.56 (95% confidence interval 0.33-0.95), while no association were found with risk of adenomas.
|
15946795 |
2005 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF V599E mutation was found in 27 serrated adenomas (77.1%), and KRAS mutations were found in 3 (8.6%) of 35 traditional serrated adenomas.
|
15991007 |
2005 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF V599E mutation was found in 27 serrated adenomas (77.1%), and KRAS mutations were found in 3 (8.6%) of 35 traditional serrated adenomas.
|
15991007 |
2005 |
|
rs121908874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we study mechanisms of receptor activation in a genomic TSH-R variant V509A located in transmembrane helix (TMH) 3, which we identify in a family with congenital hyperthyroidism, multiple adenomas and follicular thyroid cancer.
|
16079263 |
2005 |
|
rs142163070
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldosterone-producing adenomas.
|
16118341 |
2005 |