|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 mutations may be a rare event in Rwandan population and may only play a minor if an role in breast cancer
|
29479983 |
2018 |
|
Malignant neoplasm of prostate
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found monoallelic truncating/functionally deleterious mutations in seven genes, including ATM and CHEK2, which have previously been associated with PrCa predisposition, and five new candidate PrCa associated genes involved in cancer predisposing recessive disorders, namely RAD51C, FANCD2, FANCI, CEP57 and RECQL4.
|
29659569 |
2018 |
|
Malignant neoplasm of prostate
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No association was found between CHEK2 mutation status and early-diagnosis or PCa-specific survival time.
|
29520813 |
2018 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
|
28503720 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
|
27798748 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
|
28386063 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
|
27696107 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
|
28125075 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
|
27616075 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Current perspectives on CHEK2 mutations in breast cancer.
|
28553140 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss of MutL Disrupts CHK2-Dependent Cell-Cycle Control through CDK4/6 to Promote Intrinsic Endocrine Therapy Resistance in Primary Breast Cancer.
|
28801307 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
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 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the 1007 probands in the study, 903 probands had no founder mutations in BRCA1 or BRCA2; of these probands, 7 (0.8%) carried another pathogenic mutation in BRCA1 or BRCA2, and 31 (3.4%) carried a pathogenic mutation in another breast cancer gene (29 in CHEK2, and 1 each in BRIP1 and NBN).
|
28727877 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study identified several new risk variants in BRCA1, BRCA2, CHEK2, and PALB2 genes in relation to breast cancer risk in Asian women.
|
28419251 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), observed pathogenic variants in 5 of 16 genes were associated with high or moderately increased risks of breast cancer: ATM (OR, 2.78; 95% CI, 2.22-3.62), BARD1 (OR, 2.16; 95% CI, 1.31-3.63), CHEK2 (OR, 1.48; 95% CI, 1.31-1.67), PALB2 (OR, 7.46; 95% CI, 5.12-11.19), and RAD51D (OR, 3.07; 95% CI, 1.21-7.88).
|
28418444 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Eleven mutations were found in other breast cancer susceptibility genes including CHEK2 (n = 5), PALB2 (n = 2), BLM (n = 2), ATM (n = 1) and TP53 (n = 1).
|
27798748 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that pCHK2-Thr68 and pCDC25C-Ser216 play important roles in breast cancer and may be potential treatment targets.
|
27801830 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previously, another CHEK2 mutation, the protein truncating c.1100delC has been associated with poor prognosis of breast cancer patients.
|
27716369 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.
|
26556299 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |