fap - familial adenomatous polyposis germline mutations in the apc gene (“gatekeeper”) hnpcc -...
Post on 30-Dec-2015
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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”)
autosomal dominant loss of heterozygosity
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
maps to human chromosome 2p22-21
heterozygous for mismatch repair genes hMSH2 and hMLH1 = tumor suppressors
Black = +/+ Green = G674A/+
solid red = G674A/G674A
blue = -/- Dotted red =
backcross
the HALMARK of Lynch Syndrome (HNPCC)
Defective MMR = MSI
5 standard DNA markers: *BAT26*
surgical management – partial colectomy
chemotherapy – need functional MMR
possible preventative treatment› aspirin› resistant starch (fiber)
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