Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
Malignant neoplasm of breast
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
Lymphoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
|
|
|
Colorectal Carcinoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
Choroid Plexus Papilloma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Pancreatic carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
ADRENOCORTICAL CARCINOMA, HEREDITARY
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Liver carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Sarcoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
ovarian neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Nasopharyngeal carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
GLIOMA SUSCEPTIBILITY 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Malignant neoplasm of large intestine
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Osteosarcoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
The p53 tumour suppressor gene.
|
2046748 |
1991 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.
|
1359493 |
1992 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
Malignant neoplasm of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
Primary malignant neoplasm of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
Carcinoma of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |