Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Clinically actionable BC susceptibility PVs, particularly in BRCA2 and CHEK2, were relatively prevalent among older women undergoing genetic testing. 31012959

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE We investigated the mutation spectrum and clinical relevance of CHEK2 germline mutations in Chinese breast cancer patients. 29356917

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients. 29785007

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored. 29909568

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Current perspectives on CHEK2 mutations in breast cancer. 28553140

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation 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