|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
|
26991782 |
2016 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
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 |
|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Interestingly, we found no increased breast cancer risk associated with the splice site mutation IVS2+1G-->A or the most common missense mutation I157T, which account for more than half (12/21) of the variants observed in patients.
|
15095295 |
2004 |
|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.
|
15239132 |
2004 |
|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04).
|
15492928 |
2004 |
|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America.
|
12610780 |
2003 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We screened a cohort of 2334 Chinese women with operable primary breast cancer who received a neoadjuvant chemotherapy regimen for CHEK2 H371Y germline mutations.
|
25884806 |
2015 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
|
24390236 |
2014 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The p.H371Y mutation was significantly associated with increased breast cancer risk in unselected b</span>reast cancer (odds ratio [OR] 2.43, 95% confidence interval [CI] 1.07-5.52, P = 0.034).
|
21618645 |
2011 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T.
|
18484200 |
2008 |
|
rs536907995
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.
|
27510020 |
2016 |
|
rs536907995
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.
|
27039729 |
2016 |
|
rs766794072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu.
|
31754952 |
2020 |
|
rs1175088679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified a likely damaging germline rs35352891 in the MUTYH gene (c.1118C>T, p.Ala373Val) in one Buryat Mongol BC patient.
|
31273614 |
2019 |