Cancer Risks and Average Age of Onset:
Below are gene-specific risk tables indicating the lifetime risk to develop cancer (up to age 80) in individuals with Lynch syndrome compared to the general population, depending on which MMR gene harbors a pathogenic mutation.
| Cancer | General population risk | MLH1 mutation carriers | Mean Age of Onset
(years) |
| Colorectal | 4.2% | 46 - 61% | 44 |
| Endometrial | 3.1% | 34 - 54% | 49 |
| Ovarian | 1.3%
| 4 - 20% | 46 |
| Renal pelvis and/or ureter | N/A | 0.2 - 5% | 59-60 |
| Bladder | 2.4% | up to 7% | 59 |
| Gastric | 0.9% | 5 - 7% | 52 |
| Small bowel | 0.3% | 0.4 - 11% | 47 |
| Pancreatic | 1.6% | 6.2% | No data |
Prostate
| 11.6%
| up to 13.8%
| 63
|
Biliary tract
| 0.2% | 1.9 - 3.7% | 50 |
| Brain/CNS | 0.6% | up to 1.7% | 63 |
| Cancer | General population risk | MSH2/EPCAM mutation carriers | Mean Age of Onset
(years) |
| Colorectal | 4.2% | 33 - 52% | 44 |
| Endometrial | 3.1% | 21 - 57% | 47-48 |
| Ovarian | 1.3% | 8 - 38% | 43 |
| Renal pelvis and/or ureter | N/A | 2.2 - 28% | 54-61 |
| Bladder | 2.4% | 4.4 - 12.8% | 59 |
| Gastric | 0.9% | up to 9.0% | 52 |
| Small bowel | 0.3% | 1.1 - 10% | 48 |
Prostate
| 11.6%
| up to 23.8%
| 59-63 |
Biliary tract
| 0.2% | up to 1.7% | No data |
| Brain/CNS | 0.6% | 2.5-7.7% | No data |
| Cancer | General population risk | MSH6 mutation carriers | Mean Age of Onset
(years) |
| Colorectal | 4.2% | 10-44% | 42-69 |
| Endometrial | 3.1% | 16-49% | 53-55 |
| Ovarian | 1.3% | up to 13% | 46 |
| Renal pelvis and/or ureter | N/A | 0.7-5.5% | 65-69 |
| Bladder | 2.4% | up to 8.2% | 71 |
| Gastric | 0.9% | up to 7.9% | 2 cases reported at ages 45 and 81 |
| Small bowel | 0.3% | 1-4% | 54 |
Prostate
| 11.6%
| 11.6%
| 63
|
Biliary tract
| 0.2% | up to 1% | No data |
| Brain/CNS | 0.6% | up to 1.8% | 43-54 |
| Cancer | General population risk | PMS2 mutation carriers | Mean Age of Onset
(years) |
| Colorectal | 4.2% | 8.7 - 20% | 61-66 |
| Endometrial | 3.1% | 13 - 26% | 49-50 |
| Ovarian | 1.3% | 3% | 51-59 |
| Renal pelvis and/or ureter | N/A | 1 - 3.7% | No data |
| Gastric | 0.9% | Inadequate data | Inadequate data |
| Bladder | 2.4% | up to 2.4% | 71 |
| Small bowel | 0.3% | Inadequate data | Single case - 59 |
Prostate
| 11.6%
| 11.6%
| No data
|
Biliary tract
| 0.2% | up to 1% | No data |
Brain/CNS
| 0.6% | up to 1% | 40 |
A useful website that can be used to calculate approximation of the risk of cancers over time for various hereditary cancer susceptibility genes is ASK2ME™ (All Syndromes Known to Man Evaluator™). This is a tool to help visualize recent data and is not meant to replace clinical judgement, Ask2Me (All Syndromes Known to Man Evaluator™).
