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Hereditäres Mammakarzinom

  • Nina Ditsch,
  • Melitta Köpke,
  • Angelika Mattmer,
  • Monika Golas

摘要

Since the discovery of the BRCA1 gene in 1994, the topic of heredity in breast cancer has become increasingly important. This article provides an overview of the basic genetics of hereditary breast and ovarian cancer, with a focus on possible pathogenic variants of genes including BRCA1/2, PALB2, TP53, and CHEK2. At the same time, the treatment of affected patients as well as preventive options for healthy persons are highlighted. This requires identification of an increased risk, which forms the basis for genetic testing.