|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary cases account for 510% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene.
|
27510020 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan.
|
27039729 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
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 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comparative genomic analysis of primary tumors and metastases in breast cancer.
|
27028851 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
|
27553368 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of the CHEK2 R95* germline mutation.
|
27708748 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
|
27067391 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 is a cell cycle checkpoint regulator, and the CHEK2*1100delC germline mutation leads to loss of function and increased breast cancer risk.
|
26884562 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017).
|
27595995 |
2016 |
|
Malignant neoplasm of prostate
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men.
|
27595995 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The role of CHEK2 in DNA repair by homologous recombination suggests that CHEK2-associated breast cancer (BC) patients might be more sensitive to chemotherapy inducing double-strand DNA breaks, but results hereon are lacking.
|
25958056 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
|
26023681 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
|
25619829 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Based on the prevalence and penetrance of pathogenic mutations and the prevalence of variants of unknown significance, it is our interpretation that BRCA1, BRCA2, PALB2 and CHEK2 are the best candidates for inclusion in a clinical multigene breast cancer panel.
|
26523341 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We screened the entire coding region of CHEK2 gene on 59 high-risk breast cancer patients who tested negative for BRCA1/2 germline mutations from UKM Medical Centre (UKMMC), Hospital Kuala Lumpur (HKL) and Hospital Putrajaya (HPJ).
|
25629968 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
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 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Use of panel tests in place of single gene tests in the cancer genetics clinic.
|
25318351 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
|
25503501 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CHEK2 mutations and the risk of papillary thyroid cancer.
|
25583358 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2.
|
25467110 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
In support of this hypothesis, we have previously shown inactivation of either TP53 or its key activators CHK2 and ATM to predict resistance to DNA damaging drugs in breast cancer better than TP53 mutations alone.
|
26004085 |
2015 |