Table 1.
List of the main syndromes associated with CRC with associated genes and CRC risk estimates.
| HCRC Type | Syndrome | Associated Genes | Locus | Inheritance | CRC Risk * | References |
|---|---|---|---|---|---|---|
| Hereditary non-polyposis colorectal cancer | ||||||
| Lynch syndrome (LS) | MLH1 | 3p22.2 | AD | 46–61% | [19] | |
| MSH2 | 2p21-p16 | 33–52% | ||||
| MSH6 | 2p16.3 | 10–44% | ||||
| PMS2 | 7p22.1 | 8.7–20% | ||||
| EPCAM | 2p21 | 33–52% | ||||
| Constitutional mismatch repair deficiency syndrome (CMMRD) | MMR genes | - | AR | NA | [152] | |
| Familial colorectal cancer type X syndrome (FCCTX) | RPS20 | 8q12.1 | AD | NA | [67] | |
| Li–Fraumeni syndrome (LFS) | TP53 | 17p13.1 | AD | >20% | [74] | |
| Hereditary polyposis colorectal cancer | ||||||
| Adenomatous | Familial adenomatous polyposis (FAP) | APC | 5q22.2 | AD | 100% | [87] |
| Attenuated familial adenomatous polyposis (AFAP) | APC | 5q22.2 | AD | 70% | [87] | |
| MUTYH-associated polyposis (MAP) | MUTYH | 1p34.1 | AR | 70–90% | [105] | |
| NTHL1-associated polyposis | NTHL1 | 16p13.3 | AR | >20% | [126] | |
| MSH3-associated polyposis | MSH3 | 5q14.1 | AR | NA | [153] | |
| Polymerase proofreading-associated polyposis (PPAP) | POLE | 12q24.33 | AD | >20% | [154] | |
| POLD1 | 19q13.33 | |||||
| AXIN2-associated polyposis | AXIN2 | 17q24.1 | AD | NA | [155] | |
| Hamartomatous | Peutz–Jeghers syndrome (PJS) | STK11 | 19p13.3 | AD | 39% | [143] |
| PTEN hamartoma tumor syndrome (PHTS) | PTEN | 10q23.31 | AD | 11–20% | [156] | |
| Juvenile polyposis syndrome (JPS) | BMPR1A | 10q23.2 | AD | 40–50% | [157] | |
| SMAD4 | 18q21.2 | >50% | ||||
| Serrated | RNF43-associated serrated polyposis | RNF43 | 17q22 | AD | NA | [158] |
| Mixed | GREM1-associated mixed polyposis | GREM1 | 15q13.3 | AD | 11–20% | [159] |
AD: autosomal dominant; AR: autosomal recessive; NA: not assessed. * The percentages represent lifetime risks.