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 FAP - familial adenomatous polyposis  germline mutations in the APC gene (“gatekeeper”)  HNPCC - hereditary nonpolyposis colon cancer (a.k.a. Lynch.

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Presentation on theme: " FAP - familial adenomatous polyposis  germline mutations in the APC gene (“gatekeeper”)  HNPCC - hereditary nonpolyposis colon cancer (a.k.a. Lynch."— Presentation transcript:

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2  FAP - familial adenomatous polyposis  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”)

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4  autosomal dominant  loss of heterozygosity

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

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7  heterozygous for mismatch repair genes  hMSH2 and hMLH1 = tumor suppressors

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12  Black = +/+  Green = G674A / +  solid red = G674A/G674A  blue = -/-  Dotted red = backcross

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

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15  surgical management – partial colectomy  chemotherapy – need functional MMR  possible preventative treatment › aspirin › resistant starch (fiber)


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