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Related Experiment Videos

Nevoid basal cell carcinoma syndrome

A E Bale1, M R Gailani, D J Leffell

  • 1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.

The Journal of Investigative Dermatology
|November 1, 1994
PubMed
Summary

Nevoid basal cell carcinoma syndrome involves developmental defects and tumors due to a gene on chromosome 9q. Inactivation of this tumor suppressor gene causes cancer, while mutations lead to congenital anomalies.

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Area of Science:

  • Genetics
  • Oncology
  • Developmental Biology

Background:

  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder.
  • It predisposes individuals to basal cell carcinomas, ovarian fibromas, and medulloblastomas.
  • NBCCS is characterized by widespread developmental defects, distinguishing it from other cancer predisposition syndromes.

Purpose of the Study:

  • To identify the gene responsible for NBCCS.
  • To investigate the role of a potential tumor suppressor gene on chromosome 9q in NBCCS and associated tumors.
  • To understand the genetic basis of both the congenital anomalies and tumor development in NBCCS.

Main Methods:

  • Screening for allelic loss in sporadic and hereditary basal cell carcinomas, ovarian fibromas, and medulloblastomas.

Related Experiment Videos

  • Analyzing chromosome 9q deletions in patients with NBCCS.
  • Conducting genetic linkage studies in large families with NBCCS.

    • Main Results:

    • Evidence for a tumor suppressor gene on chromosome 9q implicated in basal cell carcinomas, ovarian fibromas, and medulloblastomas.
    • Demonstration of a chromosome 9q deletion in a patient with NBCCS, mapping the NBCCS gene to the same critical region.
    • Genetic linkage studies confirmed the NBCCS gene maps to this specific chromosomal location.

    Conclusions:

    • Tumor development in NBCCS arises from homozygous inactivation of the tumor suppressor gene on chromosome 9q.
    • The gene functions as a tumor suppressor, and its inactivation leads to cancer.
    • Hemizygous germ-line mutations in this gene result in the multiple congenital anomalies characteristic of NBCCS.