Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE Such factors may not be needed for breast tumors with a defect in a non-essential gene such as CHEK2. 26553136

2015
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker BEFREE Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele. 24415413

2014
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001). 22799331

2012
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. 21542898

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE We have here studied CHEK2 protein expression by immunohistochemistry on a tissue microarray of 611 unselected breast tumors and also evaluated the tumor characteristics among 1,297 unselected breast cancer patients defined for the c.1100delC germ line mutation status (2.5% carrier frequency). 15472904

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 AlteredExpression BEFREE We studied CHEK2 protein expression in 111, and loss of heterozygosity at CHEK2 in 88 breast tumors from these patients. 14678969

2003
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE Finally, tissue microarray analysis indicated that breast tumors from patients with 1100delC mutations show reduced CHEK2 immunostaining. 12094328

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker BEFREE We conclude that somatic CHK2 mutations are rare in breast cancer, but our results suggest a tumor suppressor function for CHK2 in a small proportion of breast tumors. 12052256

2002