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Related Experiment Videos

BAP1 and breast cancer risk.

Isabelle Coupier1, Pierre-Yves Cousin, David Hughes

  • 1Service de Génétique Oncologique, Institut Curie--Section Médicale, 26 rue d'Ulm, 75248, Paris, France. isabelle.coupier@curie.net

Familial Cancer
|December 13, 2005
PubMed
Summary

The BAP1 gene, interacting with BRCA1, was studied in French familial breast cancer cases. While not a high-risk gene, a specific BAP1 variant may indicate moderate risk in sporadic breast cancer cases.

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • BRCA1/2 mutations are key drivers of hereditary breast cancer.
  • The role of other genes, like BAP1, in breast cancer predisposition requires further investigation.

Purpose of the Study:

  • To investigate the role of the BAP1 gene in familial breast cancer cases negative for BRCA1/2 mutations.
  • To assess whether BAP1 mutations contribute to hereditary breast cancer risk.

Main Methods:

  • Analysis of the BAP1 gene in 47 French familial breast cancer patients.
  • Exclusion of BRCA1/2 mutations in the studied cohort.

Main Results:

  • No deleterious BAP1 mutations were detected in familial breast cancer cases.

Related Experiment Videos

  • A common BAP1 variant (rs123602) was identified.

    • Conclusions:

    • BAP1 is unlikely to be a high-risk predisposition gene for breast cancer.
    • The BAP1 variant rs123602 warrants further investigation as a potential moderate risk factor in sporadic breast cancer.