Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 CausalMutation group 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
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 CausalMutation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group 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
0.500 Biomarker group 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
0.500 GeneticVariation group 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
0.500 CausalMutation group CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986 2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group 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
0.500 GeneticVariation group LHGDN Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. 18930998 2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 Biomarker group CTD_human Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines. 18297428 2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 Biomarker group LHGDN Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. 19124502 2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. 19021634 2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. 18706089 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 CausalMutation group CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN 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
0.500 GeneticVariation group LHGDN Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. 18058223 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population. 17876702 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. 18172190 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. 18381420 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. 18175216 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study. 18253122 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group LHGDN CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. 18725978 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 Biomarker group LHGDN Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? 18557994 2008
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 GeneticVariation group CLINVAR Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. 17721994 2007
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.500 CausalMutation group CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035 2007