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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