rs121908707
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs531398630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene.
|
27442652 |
2016 |
rs786202601
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers.
|
15520402 |
2004 |
rs137853007
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we describe a CHK2 missense mutation (R145W) in another LFS family.
|
11719428 |
2001 |
rs137853007
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Here, we describe a CHK2 missense mutation (R145W) in another LFS family.
|
11719428 |
2001 |
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
|
10617473 |
1999 |
rs555607708
|
|
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 |
rs137853007
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
rs137853007
|
|
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 |
rs137853007
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
|
11298456 |
2001 |
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
|
19338683 |
2009 |