Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs28897672
rs28897672
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
C 0.870 CausalMutation CLINVAR

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368

2016

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.810 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

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age. 25619829

2015

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645

2011

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.810 CausalMutation CLINVAR