Source: LHGDN

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 LHGDN CHEK2 1100delC mutation is frequent among Russian breast cancer patients. 16758118

2006
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Association between the CHEK2*1100delC germ line mutation and estrogen receptor status. 17010071

2006
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Pathology of breast cancer in women with constitutional CHEK2 mutations. 15803365

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. 15649950

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. 15803363

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. 15700044

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN 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 GeneticVariation LHGDN Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation. 16337852

2005
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. 15466005

2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 15122511

2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair. 14701743

2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Limited relevance of the CHEK2 gene in hereditary breast cancer. 15095295

2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 11967536

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN CHEKs and balances: accounting for breast cancer. 11984555

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Finally, tissue microarray analysis indicated that breast tumors from patients with 1100delC mutations show reduced CHEK2 immunostaining. 12094328

2002