|
Breast Carcinoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Breast Carcinoma
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population.
|
11461078 |
2001 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, despite the rarity of somatic mutations in Chk2 in sporadic breast carcinomas, our results nevertheless reveal that concomitant loss of function in Chk2 (via down-regulation of expression) and p53 (via mutation) occurs in a proportion of sporadic cases.
|
11857075 |
2002 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
This suggests that the biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.
|
11967536 |
2002 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This suggests that the biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.
|
11967536 |
2002 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that somatic CHK2 mutations are rare in breast cancer, but our results suggest a tumor suppressor function for CHK2 in a small proportion of breast tumors.
|
12052256 |
2002 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results suggest that CHEK2 acts as a low-penetrance tumor-suppressor gene in breast cancer and that it makes a significant contribution to familial clustering of breast cancer-including families with only two affected relatives, which are more common than families that include larger numbers of affected women.
|
12094328 |
2002 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Second, in breast cancer genetics, CHEK2 was identified as one of what are likely to be many low-penetrance breast cancer susceptibility genes.
|
12409647 |
2002 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate if other CHEK2 variants confer an increased risk of breast cancer, we have screened an affected individual with breast cancer from 68 breast cancer families.
|
12454775 |
2002 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation.
|
12529183 |
2003 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that 1100delC may be the only CHEK2 allele that makes an appreciable contribution to breast cancer susceptibility.
|
12610780 |
2003 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
|
12690581 |
2003 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the CHEK2 polymorphisms IVS + 1a and a1013g do not confer an increased risk of breast cancer.
|
12917215 |
2003 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study describes the use of DHPLC for mutation analysis for BRCA1, BRCA2 and CHEK2 (1100delC) in 22 patients with a family history of breast and/or ovarian cancer and early onset breast cancer (<35 years of age).
|
14507240 |
2003 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, the CHEK 2 gene, involved in DNA damage and replication checkpoints, has been pointed out as a good candidate; moreover, a specific variant in this gene,1100delC, has been found to increase breast cancer susceptibility among familial breast cancer cases not attributable to mutations in BRCA1 or BRCA2 genes.
|
14618615 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 1100delC mutation in CHEK2 (previously known as CHK2), a cell-cycle checkpoint kinase, has been implicated in predisposition of Li-Fraumeni syndrome (LFS) and breast cancer in families suggestive of LFS.
|
14648717 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Together, these data suggest a functional link between recombination control and breast cancer predisposition in carriers of Chk2 and BRCA1 germ line mutations.
|
14701743 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The truncating germline mutation CHEK2(*)1100delC abrogates kinase activity and confers low-penetrance susceptibility to breast cancer.
|
14970869 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the variant in other situations is uncertain.
|
15122511 |
2004 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
The results are consistent with the hypothesis that CHEK2*1100delC multiplies the risks associated with susceptibility alleles in other genes to increase the risk of breast cancer.
|
15122511 |
2004 |
|
Breast Carcinoma
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Furthermore, inactivation of Chk2 and Brca1 was cooperative in breast cancer.
|
15131084 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have evaluated the role of another CHEK2 variant, I157T in the FHA domain of the gene, for association with breast cancer.
|
15239132 |
2004 |