Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200928781
rs200928781
G 0.810 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018

dbSNP: rs200928781
rs200928781
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
G 0.810 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016

dbSNP: rs200928781
rs200928781
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
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
0.810 GeneticVariation BEFREE In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age. 25619829

2015

dbSNP: rs200928781
rs200928781
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
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
0.810 GeneticVariation UNIPROT A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645

2011

dbSNP: rs200928781
rs200928781
G 0.810 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs200928781
rs200928781
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
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

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

2002