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 |
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 |
We conclude that the 1100delC mutation of the CHEK2 gene contributes little to the overall breast cancer burden in Poland, including familial cases of this malignancy.
|
16830057 |
2006 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland.
|
16897426 |
2007 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Women with a truncating mutation in CHEK2 and a positive family history of breast cancer have a lifetime risk of breast cancer of greater than 25% and are candidates for magnetic resonance imaging screening and for tamoxifen chemoprevention.
|
21876083 |
2011 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 1100delC mutation was recently identified as a low-penetrance breast cancer susceptibility allele.
|
15852425 |
2005 |
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 |
The CHEK2 1100delC mutation was analysed in the same series of patients and controls as in the HLA breast cancer study.
|
16043347 |
2005 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, a combination of family-based and population-based approaches indicated that genes involved in DNA repair, such as CHEK2, ATM, BRIP1 (FANCJ), PALB2 (FANCN) and RAD51C (FANCO), are associated with moderate BC risk.
|
23747889 |
2013 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that common variants in the ATM, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined breast cancer.
|
17132159 |
2006 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The CHEK2 1100delC was not significantly increased in Swedish colorectal cancer patients, however, in order to determine the role of the variant in colorectal cancer families with the history of breast cancer a larger sample size is needed.
|
17214356 |
2007 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Before such predictions are accepted by clinical geneticists, however, further population-based evidence is needed on the effect of CHEK2 1100delC and other moderate penetrance alleles in women with a family history of breast cancer.
|
19124502 |
2009 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2, including checkpoint kinase 2 (CHEK2) (11.7%), ataxia telangiectasia mutated (ATM; ATM serine/threonine kinase) (9.7%), and partner and localizer of BRCA2 (PALB2) (9.3%).
|
28085182 |
2017 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44).
|
30128536 |
2019 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer risk associated with CHEK2 mutations.
|
25355026 |
2014 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Increased breast cancer risk (hazard ratio (HR) 2.0 (95% confidence interval (CI): 1.4-2.7), p<0.001) was observed in sisters of CHEK2∗1100delC positive index cases compared to sisters of CHEK2∗1100delC negative index cases.
|
23415889 |
2013 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed germline CHEK2 variants in 1,928 high-risk Czech breast/ovarian cancer (BC/OC) patients and 3,360 population-matched controls (PMCs).
|
31050813 |
2019 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 affected women for recurrent Slavic mutations in BRCA1, CHEK2, NBN/NBS1, ATM, and BLM genes.
|
24800916 |
2014 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most of the breast cancer susceptibility genes identified to date are involved in DNA repair, including BRCA1, BRCA2, PALB2, CHEK2 and BRIP1.
|
18306035 |
2009 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Examples of rare cancer variants include breast cancer susceptibility loci CHEK2, BRIP1 and PALB2.
|
20554195 |
2010 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CHEK2 gene confer a moderately increased breast cancer risk.
|
22058428 |
2011 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To extend our knowledge on the role of CHEK2 in susceptibility to male breast cancer we have screened a series of 26 breast cancer cases with male representation for germline sequence variation in the CHEK2 gene.
|
15488637 |
2004 |
Breast Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Accordingly, in this study many pyrimidine-benzimidazole conjugates were designed and twelve feasible derivatives were selected to be synthesized to investigate their activity against Chk2 and subjected to study their antitumor activity alone and in combination with the genotoxic anticancer drugs cisplatin and doxorubicin on breast carcinoma, (ER+) cell line (MCF-7).
|
29407991 |
2018 |