|
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 |
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
|
|
|
0.800 |
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 |
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
|
|
|
0.800 |
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 |
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
|
|
|
0.800 |
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 |
|
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 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.
|
15239132 |
2004 |
|
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 |
|
rs17879961
|
|
|
0.800 |
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 |
|
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 |