rs137853011, CHEK2

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation 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
0.700 GeneticVariation CLINVAR Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. 30152102 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. 28727877 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation 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
0.700 GeneticVariation CLINVAR Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. 28135139 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing. 28981386 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation 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
0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. 27621404 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation 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
0.700 GeneticVariation CLINVAR Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. 24506336 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. 18706089 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035 2007