Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The CHEK2 gene and its encoded protein Chk2 have a well-known role in cancers, especially those related to breast cancer mediated through the BRCA1 gene.
|
30633282 |
2019 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
CHK2 is a well-studied moderate penetrance gene that correlates with third high risk susceptibility gene with an increased risk for breast cancer.
|
31398194 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
|
30128536 |
2019 |
Malignant neoplasm of breast
|
0.800 |
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 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, mutations in CHEK2 lead to resistance of BC cells to chemotherapy and metastasis of cancer cells to other parts of the body.
|
31220302 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In total, 120 germline CHEK2 missense variants, distributed along the protein sequence, and two large in-frame deletions were tested, originating from genetic test results in breast cancer families, or selected from the ClinVar database.
|
30851065 |
2019 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
As part of the CAGI-5 challenge, we evaluated the performance of 18 submissions and three additional methods in predicting the pathogenicity of single nucleotide variants (SNVs) in checkpoint kinase 2 (CHEK2) for cases of breast cancer in Hispanic females.
|
31241222 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Next-generation-sequencing-based targeted cancer-related gene assay confirmed <i>SMARCB1</i> loss and revealed other mutations in breast cancer 1 gene and checkpoint kinase 2 gene, which may have impacted her clinical course.
|
30297384 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53).
|
31206626 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinically actionable BC susceptibility PVs, particularly in BRCA2 and CHEK2, were relatively prevalent among older women undergoing genetic testing.
|
31012959 |
2019 |
Malignant neoplasm of breast
|
0.800 |
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 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D.
|
30552672 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This case provides insight into the role of the CHEK2 gene in causing breast cancer susceptibility in families and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.
|
31296309 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
|
29945567 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with CHEK2 mutations are significantly more likely to have family histories of cancer, and to develop lymph node-positive and/or PR-positive breast cancers.
|
29356917 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.
|
29785007 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized.
|
29445900 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
|
28608266 |
2018 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
In vivo Chk2 and antitumor activities of 8d as a single-agent, and in combination with doxorubicin, were evaluated in breast cancer bearing animals induced by N-methylnitrosourea.
|
29316526 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored.
|
29909568 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
ART can inhibit cell proliferation and promote G2/M arrest in MCF7 cells through ATM activation and the ensuing "ATM-Chk2-Cdc25C" pathway, thus implicating ART as a novel candidate for breast cancer chemotherapy.
|
29797234 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
|
30256826 |
2018 |
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 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 |