Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. 17705858

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE CHEK2 1100delC was genotyped in the index cases of 369 Dutch colorectal cancer families that had been excluded for familial breast cancer. 18676774

2008

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles. 21562711

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome. 31296309

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. 21542898

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. 29522266

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact. 31398194

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN Concomitant inactivation of p53 and Chk2 in breast cancer. 11857075

2002

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN DNA damage-induced activation of p53 by the checkpoint kinase Chk2. 10710310

2000

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer. 24986639

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent. 23415889

2013

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Germ line CHEK2 mutations are seen in a subset of patients with a familial breast cancer and sarcoma phenotype. 24595525

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. 10724175

2000

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility. 30303537

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Here, we briefly outline the molecular properties, regulation and physiological role of CHEK2, and review in more detail its defects that predispose to tumors, with particular emphasis on familial breast cancer. 16998506

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2. 25736863

2015

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE However, only about 20% of familial breast cancer cases are attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2. 25936246

2015

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. 26884562

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Mutations in the recognized breast cancer susceptibility genes BRCA1, BRCA2, TP53, ATM, and CHEK2 account for approximately 20% of hereditary breast cancer. 21409391

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE One gene that is commonly included on NGS hereditary breast cancer panels is CHEK2. 25355026

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker CLINGEN PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016