CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Mammary Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. 28514723 2017
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
dbSNP: rs786202676
rs786202676
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986 2011
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035 2007
dbSNP: rs587780170
rs587780170
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. 17721994 2007
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR CHEK2-positive breast cancers in young Polish women. 16914568 2006
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709 2006
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. 15649950 2005
dbSNP: rs1555913881
rs1555913881
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.020 GeneticVariation BEFREE Our analyses suggest that there are fundamental differences in breast tumors of CHEK2:p.I157T and c.1100delC carriers. 27716369 2016
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.020 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
dbSNP: rs778212685
rs778212685
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease:
Mammary Neoplasms 		0.010 GeneticVariation BEFREE The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors. 21092294 2010