Table 3.
Estimated proportions (with corresponding 95% confidence intervals) of Lynch syndrome carriers with less than 20%, between 40% and 60%, and more than 80% penetrance*, by sex, gene and continent
| Proportion of female carriers with | Proportion of male carriers with | ||||||
|---|---|---|---|---|---|---|---|
|
|
|||||||
| Gene | Continent | <20% Penetrance | 40–60% Penetrance | >80% Penetrance | <20% Penetrance | 40–60% Penetrance | >80% Penetrance |
| MLH1 | Europe | 44% (20-64%) | 12% (7-19%) | 15% (6-28%) | 23% (6-42%) | 14% (10-20%) | 33% (18-51%) |
| North America | 31% (16-46%) | 14% (11-18%)) | 23% (14-36%) | 22% (9-36%) | 14% (11-18%) | 33% (20-49%) | |
| Australasia | 20% (2-45%) | 19% (12-30%) | 22% (6-48%) | 14% (1-36%) | 18% (11-28%) | 30% (10-59%) | |
|
| |||||||
| MSH2 | Europe | 56% (30-74%) | 10% (6-17%) | 9% (2-22%) | 36% (15-55%) | 13% (9-20%) | 21% (9-35%) |
| North America | 32% (16-48%) | 14% (10-18%) | 22% (13-35%) | 32% (17-46%) | 14% (11-18%) | 23% (14-34%) | |
| Australasia | 36% (5-65%) | 16% (8-29%) | 11% (1-37%) | 7% (0-28%) | 16% (5-25%) | 44% (17-82%) | |
|
| |||||||
| MSH6 | Europe | 84% (65-94%) | 4% (1-8%) | 2% (0-5%) | 67% (41-84%) | 8% (3-14%) | 5% (1-15%) |
| North America | 70% (46-85%) | 7% (3-13%) | 4% (1-12%) | 50% (25-70%) | 11% (7-17%) | 11% (4-26%) | |
| Australasia | 63% (23-86%) | 9% (3-21%) | 3% (0-12%) | 61% (9-89%) | 9% (2-24%) | 3% (0-26%) | |
|
| |||||||
| PMS2 | Europe | 72% (44-87%) | 6% (3-13%) | 4% (1-11%) | 81% (57-92%) | 4% (2-10%) | 2% (0-7%) |
| North America | 83% (55-95%) | 4% (1-10%) | 2% (0-9%) | 69% (29-88%) | 7% (2-15%) | 4% (1-24%) | |
| Australasia | 74% (22-96%) | 6% (0-20%) | 1% (0-15%) | 63% (14-92%) | 9% (1-23%) | 3% (0-24%) | |
*
age-specific cumulative risk of colorectal cancer to age 80 years