|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classical examples are the Rb-1 gene associated with the development of retinoblastoma and the p53 gene, which is associated with a wider range of neoplasms, including breast cancer.
|
1336726 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
|
1352883 |
1992 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.
|
8346255 |
1993 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.
|
8346255 |
1993 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.
|
8364580 |
1993 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, analysis of RB1 expression and of RB1 mutations in different tumors leads to the following dilemma: while the RB1 gene product, p110RB1, is expressed in most dividing cells, germline mutations inactivating the function of p110RB1 predispose primarily to retinoblastoma and to a lesser extent to osteosarcoma, but do not predispose to cancer in general.
|
8344484 |
1993 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutation analysis presented here may provide a basis for the screening system of RB1 gene mutations in retinoblastoma patients.
|
8178820 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5' end.
|
7959682 |
1994 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this view, we will summarize past research into the genetics of retinoblastoma that led to the discovery of the RB1 gene and discuss the influence these results have had on the field of cancer research.
|
8074836 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
|
7927327 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular studies have revealed that almost all retinoblastomas show homozygous loss of function of the RB1 gene in 13q14.
|
7947009 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma.
|
7704558 |
1994 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma.
|
7704558 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have shown previously that the most common point mutation in the RB1 gene in retinoblastoma tumours is a C-->T transition and that the majority of these occur in CGAarg codons.
|
7704558 |
1994 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.
|
8605116 |
1995 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers.
|
8741802 |
1995 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene.
|
7666401 |
1995 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.
|
7795591 |
1995 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in exons 20 to 24 of the RB-1 gene (exons where mutations predominate in retinoblastoma and other solid tumors) were analyzed by single stranded conformation polymorphism (SSCP).
|
8528059 |
1995 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.
|
7795591 |
1995 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.
|
7795591 |
1995 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.
|
8605116 |
1995 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
|
8651278 |
1996 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.
|
8570221 |
1996 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
These immunochemical and molecular analyses of the RB1 tumor suppressor gene and cyclin D1 proto-oncogene in a large series of human pancreatic cancers and cell lines indicate that RB1 and cyclin D1 alterations occur during the development of some human DPCAs.
|
8599583 |
1996 |