Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

@article{Cavenee1983ExpressionOR,
  title={Expression of recessive alleles by chromosomal mechanisms in retinoblastoma},
  author={Webster K. Cavenee and T. P. Dryja and Robert A. Phillips and William F. Benedict and Roseline Godbout and Brenda L. Gallie and A. Linn Murphree and Louise C. Strong and R. White},
  journal={Nature},
  year={1983},
  volume={305},
  pages={779-784}
}
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… 

Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour

Results of similar studies of another embryonal neoplasm, Wilms' tumour of the kidney, show that five cases were consistent with the presence on human chromosome 11 of a locus in which recessive mutational events are expressed after abnormal chromosomal segregation events during mitosis.

Genetic origin of mutations predisposing to retinoblastoma.

A new approach for identifying recessive mutant genes that lead to cancer and a conceptual basis for accurate prenatal predictions of cancer predisposition are suggested.

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

The isolation of a complementary DNA segment that detects a chromosomal segment having the properties of the gene at this locus is described, which is expressed in many tumour types, but no RNA transcript has been found in retinoblastomas and osteosarcomas.

Genetics and cytogenetics of retinoblastoma.

  • B. Horsthemke
  • Medicine, Biology
    Cancer genetics and cytogenetics
  • 1992

Somatic events unmask recessive cancer genes to initiate malignancy

A study of retinoblastoma and Wilms' tumor in comparison to the normal constitutional cells of the patients, using enzyme and DNA markers near the predisposing genes, has shown that these genes are recessive to normal wild‐type alleles at the cellular level.

Reduction to homozygosity of genes on chromosome 11 in human breast neoplasia

The results presented here demonstrate a loss of heterozygosity of several genes on chromosome 11 in primary breast tumors, and restriction fragment length polymorphism analysis of these DNAs suggests that the most frequent loss of sequences in breast tumors occurs between the beta-globin and parathyroid hormone loci on the short arm of chromosome 11.

Constitutional deletions predisposing to retinoblastoma

Patients with the heritable form of retinoblastoma carry a constitutional mutation in the retinOBlastoma locus in heterozygous form, which is identified in 3 out of 66 investigated unrelated gene carriers, using Southern blot analysis and Rb-gene cDNA-probes.
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    Proceedings of the National Academy of Sciences of the United States of America
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