| Condition |
Prevalence |
Average age at CRC diagnosis |
Gene involved |
Mode of inherit ance |
Lifetime CRC risk |
Colonic manifestation |
| LS |
1:440 |
44-45 |
MLH1,
MSH2, PMS2
MSH6 |
AD |
50-80% |
Proximal
predilection of CRCs |
| CMMRD |
- |
16 |
As LS |
AD |
100% |
Similar to LS.
Adenomatous
polyps sometimes
seen |
| FAP |
1:10,000 |
39 |
APC |
AD |
100% |
>100 adenomatous
polyps with an
average age of onset
of 16 |
| AFAP |
- |
56 |
APC |
AD |
80% |
Similar to FAP;
usually < 100 polyps
with a later age of
onset |
| MAP |
- |
45-56 |
MutYH |
AR |
Biallelic: 80%
Monoallelic:? |
10-100
adenomatous
polyps. Serrated and
hyperplastic polyps
possible. CRCs
mostly proximal |
| PJS |
1:29,000 to
1:120,000 |
43 |
STK11 |
AD |
39%;
3% at 40
5% at 50 |
Hamartomatous
polyps |
| JPS |
1:16,000 to
1:100,000 |
42 |
SMAD4
BMPR1A
ENG |
AD |
40-50%;
17-22% at 35
68% at 60 |
5-200 juvenile
hamartomatous
polyps, with an
average age of onset
of 20 |
| CS |
1:200,00 to
1:250,000 |
<50? |
PTEN |
AD |
9-16% |
Hamartomatous
polyps |
| BRRS |
- |
Pediatric
onset? |
PTEN |
AD |
Similar to CS |
Hamartomatous
polyps, younger age
at onset than CS |
| SPS |
1: 3000 |
63; <50
possible |
BRAF |
AD/AR
? |
? |
Serrated polyps |
| HMPS |
- |
48 |
15q13-14? |
AD |
? |
1-15polyps:classic,
serrated, tubular;
hyperplastic;
juvenile; mixed juvenile-adenomatous or hyperplastic adenomatous |
LS: Lynch Syndrome; CMMRD: Constitutional DNA Mismatch Repair Deficiency; FAP: Familial Adenomatous Polyposis; AFAP: Attenuated Familial Adenomatous Polyposis;
MAP: MutYH-Associated Polyposis; PJS: Peutz-Jeghers Syndrome; JPS: Juvenile Polyposis Syndrome; CS: Cowden Syndrome; BRRS: Bannayan-Riley-Ruvalcaba
Syndrome; SPS: Serrated Polyposis Syndrome; HMPS: Hereditary Mixed Polyposis Syndrome. |
