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 CausalMutation CGI

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

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

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

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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. 17250914

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. 18484200

2008

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Breast cancer risk associated with CHEK2 mutations. 25355026

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE CHEK2 1100delC mutation is frequent among Russian breast cancer patients. 16758118

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Checkpoint Kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects have been associated with an increase in breast cancer risk. 18706089

2008

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE CHEK2_1100delC was found in 5/903 (0.5%) breast cancer cases compared to 1/1016 (0.1%) controls. 19763819

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE CHK2 (checkpoint kinase 2) and BRCA1 (breast cancer early-onset 1) are tumour-suppressor genes that have been implicated previously in the DNA damage response. 21118151

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. 21542898

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. 21614566

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE CHEK2 mutation carriers reported a family history of breast cancer 2.2 times more commonly than non-carriers (16.4% vs.8.1%; p = 0.05). 25583358

2015

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

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 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 A 1100delC mutation in CHEK2 (previously known as CHK2), a cell-cycle checkpoint kinase, has been implicated in predisposition of Li-Fraumeni syndrome (LFS) and breast cancer in families suggestive of LFS. 14648717

2004

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. 16897426

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE A deletion variant in the CHEK2 gene (del1100C) has been implicated as a low-penetrance risk factor for breast cancer. 15385111

2004

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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 PosttranslationalModification BEFREE A truncating allele of the cell cycle checkpoint kinase CHK2 is present in 1% of the population, conferring a moderate increase in breast cancer risk, and inactivation of chk2 enhances mammary tumorigenesis in mice with targeted inactivation of brca1. 16488990

2006