|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)).
|
30730459 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A hospital-based case-control study, including 1,121 cases and 1,056 controls was conducted to evaluate the association between eight selected single nucleotide polymorphisms (SNPs) (rs35514263 in <i>ATR</i>; rs492510, rs558351 in <i>CHKE1</i>; rs189037 in <i>ATM</i>; rs2236141, rs5762748, rs2236142 and rs9620817 in <i>CHEK2</i>) in ATR-CHEK1 and ATM-CHEK2 pathways and the risk of colorectal cancer in a Chinese population by using TaqMan method.
|
29928473 |
2018 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis demonstrates that the CHEK2 I157T variant was an important cancer gene, which increases cancer risk, especially in breast and colorectal cancer in Caucasian, and the bioinformatic analysis showed this change was mainly attributed to the decreased hydrophobicity of CHEK2 157T.
|
23713947 |
2013 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis.
|
22901170 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.
|
21807500 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 I157T and colorectal cancer in Bulgaria.
|
20658728 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland.
|
19876921 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated the contribution of CHK2 to oxaliplatin-mediated toxicity in a colorectal cancer model.
|
20128802 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.
|
18996005 |
2009 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine of the 10 CHEK2 1100delC colorectal cancer cases met the revised Amsterdam and/or Bethesda criteria.
|
18676774 |
2008 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CHK2 mutation in colorectal cancer is a low frequency event.
|
18167186 |
2007 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 1100delC variant in Swedish colorectal cancer.
|
17214356 |
2007 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?
|
17106448 |
2007 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes.
|
17026620 |
2006 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 I157T associates with familial and sporadic colorectal cancer.
|
16816021 |
2006 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant.
|
16539695 |
2006 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Germ-line variants in CHEK2 have been associated with increased breast, thyroid, prostate, kidney, and colorectal cancer risk; however, the prevalence of somatic inactivation of CHEK2 in common cancer types is less clear.
|
17145815 |
2006 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer.
|
15818573 |
2005 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Colorectal cancer and the CHEK2 1100delC mutation.
|
15852425 |
2005 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, using 6-thioguanine (6-TG) as a mismatch-inducing drug, we examine the role of ataxia telangiectasia mutated (ATM)/CHK2 and ATM and Rad-3 related (ATR)/CHK1 signaling pathways in MMR-mediated cell cycle responses in MMR-proficient human colorectal cancer RKO cells.
|
15367709 |
2004 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 1100delC mutation was, however, not the major predisposing factor for the HBCC phenotype but appeared to act in synergy with another, as-yet-unknown susceptibility gene(s).
|
12690581 |
2003 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To further our knowledge about the contribution of CHEK2 1100delC to cancer incidence we have analysed a series of 149 patients with multiple colorectal adenomas some of whom developed colorectal cancer.
|
14568168 |
2003 |