Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE In the present study, we evaluated the presence and frequency of 1100delC and Del5395 mutations in CHEK2 gene in Serbian BRCA-negative HBOC cases. 24065469 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709 2006
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan. 23806170 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. 14507240 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Nowadays CHK2 mutation is studied frequently in hereditary breast and ovarian cancer patients in addition to BRCA1/BRCA2. 31398194 2019
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing. 28981386 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. 30152102 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease ORPHANET Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. 21562711 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. 30535581 2019
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population. 29785153 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. 15649950 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. 27621404 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Finally we have seen that the analyses of other HBOC risk gene TP53 and specific mutation in CHEK2*c.1100delC in Slovak HBOC families were not efficient since no mutations were found in these genes. 21203900 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. 24506336 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. 28135139 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR CHEK2-positive breast cancers in young Polish women. 16914568 2006
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. 18706089 2008