• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=9673367).
  
• Mutation; HGNC; HGNC:17575; SPEN; Simple; p.Arg1475Ter (c.4423C>T); Zygosity=Heterozygous (Cosmic-CLP=1298223; DepMap=ACH-002156).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Met237Ile (c.711G>T); ClinVar=VCV000634770; Zygosity=Homozygous (PubMed=8263009; PubMed=10536175; PubMed=20557307; Cosmic-CLP=1298223; DepMap=ACH-002156).
  

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