|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
|
26991782 |
2016 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
We analyzed the association between p.</span>I157T and the clinico-pathological breast cancer characteristics by comparing the p.I157T carrier tumors to non-carrier and c.1100delC carrier tumors.
|
27716369 |
2016 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
CHEK2 mutations and the risk of papillary thyroid cancer.
|
25583358 |
2015 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
|
24880342 |
2014 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008).
|
23713947 |
2013 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The risk of gastric cancer in carriers of CHEK2 mutations.
|
23296741 |
2013 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008).
|
23713947 |
2013 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
|
22811390 |
2013 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our research indicates that the CHEK2 I157T variant may be another important genetic mutation which increases risk of breast cancer, especially the lobular type.
|
22799331 |
2012 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC.
|
21701879 |
2012 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T).
|
21876083 |
2011 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T).
|
21876083 |
2011 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
CHEK2 mutations and HNPCC-related colorectal cancer.
|
19876921 |
2010 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Modest increases of breast cancer risk were observed for the four analysed CHEK2 variants (I157T, 1100delC, IVS2 + 1G > A and del5395) (OR = 2.2; 95% 1.7-2.8; P = 0.0001).
|
19030985 |
2009 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study suggests that the risk of breast cancer in carriers of a deleterious CHEK2 mutation is increased if the second allele is the I157T missense variant.
|
18930998 |
2009 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Despite the lack of association of I157T mutation with breast cancer development in our population we deduced that the FHA domain is the subject of rare population-specific alterations that might modify risk of various cancers.
|
18058223 |
2008 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
|
18725978 |
2008 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant.
|
17106448 |
2007 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Characterization of CHEK2 mutations in prostate cancer.
|
16835864 |
2006 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
The frequency, penetrance and epidemiological as well as clinical significance of the two most studied breast cancer-predisposing variants of the CHEK2 gene, 1100delC and I157T, are highlighted in more depth, and additional CHEK2 mutations and their cancer relevance are discussed as well.
|
16998506 |
2006 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.
|
16574953 |
2006 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
There was no significant overall association between CHEK2 and breast cancer (OR = 1.3; p = 0.30), but among those with lobular carcinoma the association with the I157T missense mutation was very strong (OR = 6.6; p > 0.0001).
|
15803365 |
2005 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our data indicate that the I157T allele, and possibly the IVS2+1G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility.
|
15810020 |
2005 |
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.
|
15239132 |
2004 |