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Role of MSH2 in Colon Cancer

Role of MSH2 in Colon Cancer. Meagan Parsons. *Hereditary Colon Cancer*. FAP - familial adenomatous polyposis germline mutations in the APC gene (“gatekeeper”) HNPCC - hereditary nonpolyposis colon cancer (a.k.a. Lynch syndrome )

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Role of MSH2 in Colon Cancer

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  1. Role of MSH2 in Colon Cancer Meagan Parsons

  2. *Hereditary Colon Cancer* • FAP - familial adenomatouspolyposis • germline mutations in the APC gene (“gatekeeper”) • HNPCC - hereditary nonpolyposis colon cancer (a.k.a. Lynch syndrome) • germline mutations in DNA mismatch repair genes (“caretaker”)

  3. *HNPCC* clinical/diagnostic featuresHereditary Non-Polyposis Colon Cancer

  4. *HNPCC* mode of inheritanceHereditary Non-Polyposis Colon Cancer • autosomal dominant • loss of heterozygosity

  5. *MSH2* • mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) • maps to human chromosome 2p22-21

  6. *MSH2* transcription

  7. *HNPCC* genetics • heterozygous for mismatch repair genes • hMSH2 and hMLH1 = tumor suppressors

  8. *MMR* mismatch repair

  9. *MMR* protein complexes

  10. *MMR* protein function

  11. *MSH2* mouse models

  12. *MSH2* mouse models • Black = +/+ • Green = G674A/+ • solid red = G674A/G674A • blue = -/- • Dotted red = backcross

  13. *MSI* microsatellite instability • the HALMARK of Lynch Syndrome (HNPCC) • Defective MMR = MSI • 5 standard DNA markers: *BAT26*

  14. *MSI* cancer

  15. *HNPCC* treatments • surgical management – partial colectomy • chemotherapy – need functional MMR • possible preventative treatment • aspirin • resistant starch (fiber)

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