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Published byAmberlynn James Modified over 9 years ago
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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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autosomal dominant loss of heterozygosity
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mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) maps to human chromosome 2p22-21
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heterozygous for mismatch repair genes hMSH2 and hMLH1 = tumor suppressors
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Black = +/+ Green = G674A / + solid red = G674A/G674A blue = -/- Dotted red = backcross
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the HALMARK of Lynch Syndrome (HNPCC) Defective MMR = MSI 5 standard DNA markers: *BAT26*
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surgical management – partial colectomy chemotherapy – need functional MMR possible preventative treatment › aspirin › resistant starch (fiber)
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