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Hereditary cancer and developmental abnormalities.

T Ben-Yosef1, N Benvenisty

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Biology of the Neonate
|February 5, 2000
PubMed
Summary

Hereditary cancer syndromes, often caused by tumor suppressor gene mutations, can lead to developmental abnormalities alongside cancer predisposition. Mouse models effectively mimic these human conditions, highlighting gene roles in proliferation, differentiation, and embryogenesis.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • Approximately 1% of cancers are hereditary, stemming from germ-line mutations in cancer-related genes.
  • Over 25 hereditary cancer syndromes are identified, frequently involving tumor suppressor gene mutations.
  • Tumor suppressor genes regulate cellular proliferation and may also influence differentiation.

Purpose of the Study:

  • To investigate the link between hereditary cancer syndromes and developmental abnormalities.
  • To compare human phenotypes with those observed in mouse models of these syndromes.
  • To elucidate the dual role of tumor suppressor genes in cancer and development.

Main Methods:

  • Review and synthesis of existing data on human hereditary cancer syndromes.

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  • Analysis of developmental phenotypes in human patients and corresponding mouse models.
  • Comparative analysis of cancer and developmental aspects between human syndromes and mouse models.

    • Main Results:

    • Developmental abnormalities are observed in both human hereditary cancer syndromes and their mouse models.
    • These abnormalities affect various tissues and organs, potentially causing embryonic malformations.
    • A correlation between tumor types and affected developmental tissues is noted in some syndromes.
    • Mouse models largely recapitulate human hereditary cancer syndromes, including developmental phenotypes.

    Conclusions:

    • Hereditary cancer syndromes manifest with both cancer predisposition and developmental abnormalities.
    • Tumor suppressor genes play critical roles not only in cell proliferation but also in differentiation and embryogenesis.
    • Mouse models are valuable tools for studying the complex phenotypes of hereditary cancer syndromes.