Nov 10, 2004

The cell-type-specificity of inherited predispositions to tumours: review and hypothesis

Cancer Letters
Leon P Bignold

Abstract

Most hereditary predispositions to tumours affect only one particular cell type of the body but the genes bearing the relevant germ-line mutation are not cell-type-specific. Some predisposition syndromes include increased risks of lesions (developmental or tumourous) of unrelated cell types, in any individual predisposed to the main lesion (e.g. osteosarcoma in patients predisposed to retinoblastoma). Other predispositions to additional lesions occur only in members of some families with the predisposition to the basic lesion (e.g. Gardner's syndrome in some families suffering familial adenomatous polyposis). In yet other predisposition syndromes, different mutations of the same gene are associated with markedly differing family-specific clinical syndromes. In particular, identical germline mutations (e.g. in APC, RET and PTEN genes), have been found associated with differing clinical syndromes in different families. This paper reviews previously suggested mechanisms of the cell-type specificity of inherited predispositions to tumour. Models of tumour formation in predisposition syndromes are discussed, especially those involving a germline mutation (the first 'hit') of a tumour suppressor gene (TSG) and a second (somatic) hit ...Continue Reading

  • References73
  • Citations7

References

  • References73
  • Citations7

Citations

Mentioned in this Paper

TP53 gene
Trichohepatoenteric Syndrome
BRCA2 Protein
Tumor Cells, Uncertain Whether Benign or Malignant
Biochemical Pathway
Tumor Suppressor Genes
Germ-Line Mutation
Cytogenetics
DNA Probes
Exons

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