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Hereditary aspects of upper GI malignancy

Hereditary aspects of upper GI malignancy. Eamonn Sheridan Consultant in Clinical Genetics. Familial tendancy to malignancy. Tends to be dominant Early onset of disease Rare FAP 1/8000 HNPCC 1/2500 Peutz Jeghers 1/50000 Juvenile polyposis 1/100,000 TOC two families Extra GIT features.

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Hereditary aspects of upper GI malignancy

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  1. Hereditary aspects of upper GI malignancy Eamonn Sheridan Consultant in Clinical Genetics

  2. Familial tendancy to malignancy • Tends to be dominant • Early onset of disease • Rare • FAP 1/8000 • HNPCC 1/2500 • Peutz Jeghers 1/50000 • Juvenile polyposis 1/100,000 • TOC two families • Extra GIT features

  3. Familial risks • Expressed as odds ratios • Oesophageal cancer 1.6 • Gastric cancer 2.1- 3.1 • Small bowel tumours 2.6-3.1 • No indication for screening at these levels of risk

  4. Mendelian cancer predisposition syndromes • FAP • HNPCC • Gastric cancer • Peutz Jegher • Juvenile polyposis

  5. FAP • Hundreds of colonic polyps in second and third decades • Extracolonic manifestations • Gastric polyps • Duodenal polyps • Clear excess of ampullary cancers

  6. HNPCC • No biological phenotype • Amsterdam criteria • RR stomach cancer 4.1 median age 54 • RR small bowel 25 median age 53 • RR Hepatobiliary system 4.9 age 66

  7. Peutz Jegher syndrome • Excess of small bowel tumours • Difficult to identify • Intusseception • Obstruction • Torsion

  8. Dominant Gastric cancer • extremely rare • Few families only with multiple affecteds • Mutations in b-catenin gene • Screening unproven

  9. Oesophageal cancer • Minimal familial tendancy • Two large families with TOC • Linked to chromosome 17 • No gene as yet

  10. Conclusions • Low relative risk for most of these tumours • May be significant risks if part of other syndrome • Screening uncertain

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