| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | GeneticVariation | CLINVAR | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. | 22419737 | 2012 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. | 12049740 | 2002 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Here, we describe a CHK2 missense mutation (R145W) in another LFS family. | 11719428 | 2001 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. | 11298456 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | 28779002 | 2017 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. | 27751358 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. | 22419737 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. | 19338683 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers. | 15520402 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. | 11719428 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. | 10617473 | 1999 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR |