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Approximately 5–10% of all cancers (CA) arise due to a hereditary cause. To date, over 110 cancer-predisposing genes have been identified, with approximately 60% of predispositions following an autosomal dominant (AD) and around 25% an autosomal recessive (AR) inheritance pattern. In about 15% of tumor predispositions, both an AD phenotype (adult-onset cancer) and an AR phenotype (childhood cancer) are abserved (e.g., mismatch repair (MMR) genes in Lynch syndrome).

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Hereditary Tumor Syndromes and Phacomatoses

  • 章节

  • 发表日期：

    2025年

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  • Karl Heinimann,
  • Aurel Perren,
  • Thomas Cerny,
  • Kirill Karlin,
  • Samantha Dervichian

摘要

Approximately 5–10% of all cancers (CA) arise due to a hereditary cause. To date, over 110 cancer-predisposing genes have been identified, with approximately 60% of predispositions following an autosomal dominant (AD) and around 25% an autosomal recessive (AR) inheritance pattern. In about 15% of tumor predispositions, both an AD phenotype (adult-onset cancer) and an AR phenotype (childhood cancer) are abserved (e.g., mismatch repair (MMR) genes in Lynch syndrome).