Journal ArticleDOI
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
Webster K. Cavenee,Webster K. Cavenee,Thaddeus P. Dryja,Robert A. Phillips,William F Benedict,Roseline Godbout,Brenda L. Gallie,A L Murphree,Louise C Strong,R. L. White +9 more
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TLDR
A comparison of constitutional and tumour genotypes from several cases indicates that tumorigenesis may result from the development of homozygosity for the mutant allele at the Rb-1 locus.Abstract:
Inheritance of a mutation at the Rb-1 locus, which has been mapped to band q14 of human chromosome 13, results in predisposition to retinoblastoma. Cloned DNA segments homologous to arbitrary loci of human chromosome 13 and which reveal polymorphic restriction endonuclease recognition sequences, have been used to look for somatic genetic events that might occur during tumorigenesis. A comparison of constitutional and tumour genotypes from several cases indicates that tumorigenesis may result from the development of homozygosity for the mutant allele at the Rb-1 locus. The homozygosity in these cases results from mitotic nondisjunction, resulting in loss of the homologous wild-type chromosome, or from a mitotic recombination event.read more
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A genetic model for colorectal tumorigenesis
Eric R. Fearon,Bert Vogelstein +1 more
TL;DR: A model for the genetic basis of colorectal neoplasia that includes the following salient features is presented, which may be applicable to other common epithelial neoplasms, in which tumors of varying stage are more difficult to study.
Journal ArticleDOI
Genetic alterations during colorectal-tumor development.
Bert Vogelstein,Eric R. Fearon,Stanley R. Hamilton,Scott E. Kern,Ann C. Preisinger,Mark Leppert,A M Smits,Johannes L. Bos +7 more
TL;DR: It is found that ras-gene mutations occurred in 58 percent of adenomas larger than 1 cm and in 47 percent of carcinomas, which are consistent with a model of colorectal tumorigenesis in which the steps required for the development of cancer often involve the mutational activation of an oncogene coupled with the loss of several genes that normally suppress tumors.
Pathology and genetics of tumors of soft tissue and bone
TL;DR: This list includes tumours of undefined neoplastic nature, which are of uncertain differentiation Bone Tumours, Ewing sarcoma/Primitive neuroedtodermal tumour, Myogenic, lipogenic, neural and epithelial tumours, and others.
Journal ArticleDOI
Hypervariable 'minisatellite' regions in human DNA.
TL;DR: A probe based on a tandem-repeat of the core sequence can detect many highly variable loci simultaneously and can provide an individual-specific DNA ‘fingerprint’ of general use in human genetic analysis.
Journal ArticleDOI
The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product
TL;DR: The results suggest that these three DNA viruses may utilize similar mechanisms in transformation and implicate RB binding as a possible step in human papilloma virus-associated carcinogenesis.
References
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Journal ArticleDOI
Mutation and Cancer: Statistical Study of Retinoblastoma
TL;DR: The hypothesis is developed that retinoblastoma is a cancer caused by two mutational events, in the dominantly inherited form, one mutation is inherited via the germinal cells and the second occurs in somatic cells.
Journal ArticleDOI
A highly polymorphic locus in human DNA.
Arlene R. Wyman,Ray White +1 more
TL;DR: Examination of the DNA from seven members of a family revealed fragment lengths that are consistent with their inheritance as Mendelian alleles through three generations, and appears to be the result of DNA rearrangements rather than base-pair substitutions or modifications.
Journal ArticleDOI
Cellular transforming genes
TL;DR: DNA's of various tumors induce transformation with high efficiencies, indicating that oncogenesis can involve dominant genetic alterations resulting in activation of cellular transforming genes.
Journal ArticleDOI
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D
R. S. Sparkes,A L Murphree,Robert W Lingua,Maryellen C. Sparkes,L. Leigh Field,SJ Funderburk,William F. Benedict +6 more
TL;DR: Results assign the gene for the hereditary form of retinoblastoma to band q14 on chromosome 13, the same region which is affected in the chromosome deletion form of this eye tumor, and therefore suggest a common underlying mechanism in the pathogenesis of these two forms of retInoblastomas.
Journal ArticleDOI
Regional Assignment of Genes for Human Esterase D and Retinoblastoma to Chromosome Band 13q14
Robert S. Sparkes,Maryellen C. Sparkes,Miriam G. Wilson,Joseph W. Towner,William F. Benedict,A. Linn Murphree,Jorge J. Yunis +6 more
TL;DR: The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13 and showed that the locus of this enzyme is at band 13q14, which should aid in the diagnosis and genetic counseling of retinoblastoma.