|
rs17879961
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
|
26991782 |
2016 |
|
rs17883862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another recurrent mutation with attenuated in vitro function, CHEK2-P85L, is not associated with increased breast cancer susceptibility, but exhibits a striking difference in frequency across populations with different ancestral histories.
|
17721994 |
2007 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
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 |
|
rs9620817
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01.
|
28419251 |
2017 |
|
rs200928781
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age.
|
25619829 |
2015 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
0.800 |
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 |
|
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 |
|
rs17879961
|
|
|
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 |
|
rs536907995
|
|
|
0.720 |
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 |
|
rs536907995
|
|
|
0.720 |
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 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
rs17879961
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.
|
15239132 |
2004 |
|
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 |
|
rs587782527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.1216C>T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases.
|
23806170 |
2013 |
|
rs17879961
|
|
|
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 |
|
rs200050883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer.
|
24390236 |
2014 |
|
rs587780170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer.
|
24390236 |
2014 |
|
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 |