Gene: CHEK2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
CHEK2
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
CHEK2
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
CHEK2
A 0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs786202676
rs786202676
CHEK2
G 0.700 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011
dbSNP: rs137853011
rs137853011
CHEK2
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
CHEK2
A 0.700 CausalMutation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035

2007
dbSNP: rs587780170
rs587780170
CHEK2
A 0.700 GeneticVariation CLINVAR Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. 17721994

2007
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 CausalMutation CLINVAR CHEK2-positive breast cancers in young Polish women. 16914568

2006
dbSNP: rs137853011
rs137853011
CHEK2
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
CHEK2
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
CHEK2
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs17879961
rs17879961
CHEK2
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
CHEK2
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
CHEK2
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