rs28909982, CHEK2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. 30128536 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Pancreatic cancer as a sentinel for hereditary cancer predisposition. 29945567 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. 30256826 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. 28125075 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. 28503720 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. 16982735 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR Characterization of CHEK2 mutations in prostate cancer. 16835864 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation BEFREE To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 GeneticVariation CLINVAR CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. 12454775 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. 28125075 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692 2011