Hereditary non-polyposis colorectal cancer (HNPCC) (OMIM 114500, 120435, and 120435) |
OMIM web pages | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114500, |
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120435
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436
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Mutation database |
http://www.nfdht.nl/database/mdbchoice.htm
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Families fulfilling “Amsterdam” criteria | 80–90%7,75 | hMSH2, hMLH1, |
Looser definition families | 30–45%8,76 | hMSH6, hPMS1, |
Early age of onset (+/− family history) | <30 years | 28%6 | hPMS2, TGFβ-RII |
| <45 years | 18%6 | |
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Familial adenomatous polyposis (FAP) (OMIM 175100) |
OMIM web page |
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175100
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Mutation database |
http://perso.curie.fr/Thierry.Soussi/APC.html#Ancrage2
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Classic FAP | | 80%15,16 | APC |
Attenuated FAP | | <2%17 | APC |
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Peutz-Jeghers syndrome OMIM 175200 |
OMIM web page |
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175200
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| | 20–63%25–27 | STK11/LKB1 |
| | <5%36 | PTEN |
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Juvenile polyposis (OMIM 174900 and 601228) |
Juvenile polyposis (OMIM 174900) | 50%31–34 | SMAD4/DPC4 |
OMIM web page |
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174900
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Mixed juvenile/adenomatous polyposis (OMIM 601228) | N/K | 6q locus77 |
OMIM web page |
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601228
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