Genes responsible for defined genetic syndromes predisposing to colorectal cancer
| Syndrome | Mutations identifiable | Genes involved | |
|---|---|---|---|
| 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, | ||
| http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120435 | |||
| http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436 | |||
| Mutation database | http://www.nfdht.nl/database/mdbchoice.htm | ||
| 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 | ||
| Familial adenomatous polyposis (FAP) (OMIM 175100) | |||
| OMIM web page | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175100 | ||
| Mutation database | http://perso.curie.fr/Thierry.Soussi/APC.html#Ancrage2 | ||
| Classic FAP | 80%15,16 | APC | |
| Attenuated FAP | <2%17 | APC | |
| Peutz-Jeghers syndrome OMIM 175200 | |||
| OMIM web page | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175200 | ||
| 20–63%25–27 | STK11/LKB1 | ||
| <5%36 | PTEN | ||
| 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 | ||
| Mixed juvenile/adenomatous polyposis (OMIM 601228) | N/K | 6q locus77 | |
| OMIM web page | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601228 | ||