Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. 27067391

2016

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2015

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2015

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666

2013

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2012

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. 16982735

2006

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. 15535844

2005

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR CHEK2 variant I157T may be associated with increased breast cancer risk. 15239132

2004

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740

2002

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Characterization of tumor-associated Chk2 mutations. 11053450

2001

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456

2001

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation. 11390408

2001

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001

dbSNP: rs137853007
rs137853007
0.700 GeneticVariation CLINVAR Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway. 11571648

2001