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Familial Colorectal Cancer
Introduction
• Multifactorial
• Relative risk (RR) is related to degree of family history
• 2 affected 1st degree relatives aged <70(RRx5)
• 1 affected 1st degree relatives aged <45(RRx3)
• 3 close relatives affected with average age of onset <60(RRx2)
• Familial adanomatous polyposis
• Potential family history of HNPCC
Familial adenomatous polyposis
• Germline mutations in the APC gene
• Offspring
• 50% carrier
• 100% for colorectal cancer by 50 years old
Peutz Jeghers syndrome
• 10-20% lifetime risk of colorectal cancer
• Germline mutations in STK11
• Serine threonine kinas – locus 19p14
Hereditary Non-Polyposis Colorectal Cancer
• Colorectal cancer (HNPCC1) with/without
• Uterus ca
• Stomach ca
• Renal pelvis ca
• Small intestince ca
• Pancreatic ca
• Suspected when
• ≥3 affected relatives in an AD pattern (incomplete penetrance) <50 years old

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Familial colorectal cancer

  • 2. Introduction • Multifactorial • Relative risk (RR) is related to degree of family history • 2 affected 1st degree relatives aged <70(RRx5) • 1 affected 1st degree relatives aged <45(RRx3) • 3 close relatives affected with average age of onset <60(RRx2) • Familial adanomatous polyposis • Potential family history of HNPCC
  • 3. Familial adenomatous polyposis • Germline mutations in the APC gene • Offspring • 50% carrier • 100% for colorectal cancer by 50 years old
  • 4. Peutz Jeghers syndrome • 10-20% lifetime risk of colorectal cancer • Germline mutations in STK11 • Serine threonine kinas – locus 19p14
  • 5. Hereditary Non-Polyposis Colorectal Cancer • Colorectal cancer (HNPCC1) with/without • Uterus ca • Stomach ca • Renal pelvis ca • Small intestince ca • Pancreatic ca • Suspected when • ≥3 affected relatives in an AD pattern (incomplete penetrance) <50 years old