Review Note

Last Update: 02/18/2024 05:30 AM

Current Deck: Part 2::1. Subsites::Gastrointestinal tract::Pancreatic cancer::Exocrine pancreas

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GI | Pancreas | Exocrine | 1.4.2 | Aetiology and risk factors | Familial risk factors | Provide more detail on familial risk factors for pancreatic cancer
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  • ~5-10% of individuals with pancreatic cancer have a FHx
  • ~10-15% of pancreatic cancers are attributable to genetic causes
  • Defined syndromes
    • Hereditary pancreatitis
      • Inheritance: Autosomal dominant
      • Genetic abnormality: Most often mutation in PRSS1 gene (serine protease 1)
      • Clinical features: Most develop chronic pancreatitis before 20yo, often before 5yo
      • Life time risk of pancreatic cancer: ~25-50%
      • Pathogenesis of pancreatic ca: Chronic inflammation leads to accelerated accumulation of mutations and clonal expansionInherited cancer susceptibility syndromes
    • Inherited cancer susceptibility syndromes
      • Hereditary breast and ovarian cancer (HBOC): BRCA1, BRCA2, PALB2 (RR of pancreatic cancer ~3)
      • Peutz-Jeghers syndrome
        • Inheritance: Autosomal dominant
        • Genetic abnormality: Germline mutations in STK11 gene
        • Clinical features: Hamartomoatous polyps of GIT, pigmented macules on lips and buccal mucosa, various gastrointestinal malignancies
        • Lifetime risk of panceratic cancer: 10-40%
      • Familial atypical multiple mole and melanoma syndrome (FAMMM syndrome)
        • Genetic abnormality: Mutations in cylin dependent kinase inhibitor 2A (CDKN2A) gene (p16 or multiple tumour suppressor-1 gene)
        • Lifetime risk of pancreatic cancer: 20%
      • Lynch syndrome
        • Genetic abnormality: Germline mutations in mismatch repair genes MLH1, MSH2, MSH6, PMS2
        • Lifetime risk of pancreatic cancer: 4%
        • Associated with characteristic medullary histology of pancreatic cancer
          • Patients with medullary panceratic cancer should be evaluated for Lynch syndrome
      • Ataxia telangiectasia
        • Genetic abnormality: Mutaitons in ATM gene
        • Lifetime risk of pancreatic cancer: Risk is increased, but lifetime risk uncertain
    • Cystic fibrosis (RR ~6)
  • Familial pancreatic cancer
    • Specific genetic abnormality has not yet been identified
    • Defined as a pair of affected first degree relatives who do not meet criteria for a known pancreatic cancer-associated genetic predisposition syndrome
Further information, not for memorising (no card)
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