CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Breast Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 CausalMutation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. 17250914 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. 18484200 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE Breast cancer risk associated with CHEK2 mutations. 25355026 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE CHEK2 1100delC mutation is frequent among Russian breast cancer patients. 16758118 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 Biomarker disease 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 Biomarker disease BEFREE CHEK2_1100delC was found in 5/903 (0.5%) breast cancer cases compared to 1/1016 (0.1%) controls. 19763819 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 Biomarker disease 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. 21542898 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. 21614566 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. 16897426 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE A deletion variant in the CHEK2 gene (del1100C) has been implicated as a low-penetrance risk factor for breast cancer. 15385111 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GeneticVariation disease BEFREE A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 PosttranslationalModification disease 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