|
Li-Fraumeni Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.
|
11719428 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
|
28779002 |
2017 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
|
19338683 |
2009 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.
|
11719428 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.
|
11719428 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two of the reported Chk2 mutations identified in Li-Fraumeni syndrome result in loss of Chk2 kinase activity.
|
11053450 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The CHK2 may be a tumor suppressor gene because it was found to be mutated in some individuals with the Li-Fraumeni syndrome.
|
11248330 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
ORPHANET |
Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.
|
11719428 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A hCHK2/hCds1 polymorphism in codon 84 (A-->G at nucleotide 252) was recently identified in Li-Fraumeni syndrome patients.
|
11751432 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined.
|
15057041 |
2004 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A protein-truncating mutation, 1100delC in exon 10, which abolishes the kinase function of CHEK2, has been found in families with Li-Fraumeni syndrome (LFS) and in those with a cancer phenotype that is suggestive of LFS, including breast cancer.
|
12094328 |
2002 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers.
|
15520402 |
2004 |
|
Li-Fraumeni Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer families.
|
21562711 |
2011 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings of CHK2 gene mutations are consistent with osteosarcoma being a defining tumor of Li-Fraumeni syndrome.
|
11746983 |
2002 |
|
Li-Fraumeni Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recently, the CHK2 gene was identified as being a candidate gene responsible for Li-Fraumeni syndrome (LFS).
|
11011113 |
2000 |
|
Li-Fraumeni Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
|
10617473 |
1999 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 1100delC mutation in CHEK2 (previously known as CHK2), a cell-cycle checkpoint kinase, has been implicated in predisposition of Li-Fraumeni syndrome (LFS) and breast cancer in families suggestive of LFS.
|
14648717 |
2004 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the cell cycle checkpoint gene CHEK2 have also been reported in some patients with LFS, LFL, and phenotypically suggestive of LFS (PS-LFS) not carrying a TP53 mutation.
|
15951970 |
2005 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene.
|
27442652 |
2016 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.
|
11719428 |
2001 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
ORPHANET |
Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer families.
|
21562711 |
2011 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Parallel studies of the human CHEK2 gene have also highlighted its role as a candidate multiorgan tumour susceptibility gene rather than a highly penetrant predisposition gene for Li-Fraumeni syndrome.
|
18004398 |
2007 |
|
Li-Fraumeni Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
|
11298456 |
2001 |