Table 4.
The incidence of MMRd and MMR germline mutation carriers in people with early onset CRC reported in different cohorts
| Author (year) | Age of cutoff of CRC diagnosis | MMRd/total cohort (%) | Germline mutations/total cohort (%) |
|---|---|---|---|
| Dunlop (1997) 35 | <35 | 13/23 (56.5%)* | 6/23 (26%) |
| Ho (2000)36 | <50 | 33/124 (26.6%)* | 8/124 (6.4%) |
| Terdiman (2002)37 | <35 | 28/40 (70%)* | 13/40 (32.5%) |
| Durno (2005)38 | <25 | 8/11 (73%)* | 6/11 (54.5%) |
| Niessen (2006)39 | <50 | 50/209 (24%)*** | 25/281 (9%) |
| Goel (2010)40 | <50 | 16/75 (21%)*** | - |
| Giráldez (2010)41 | <50 | 20/140 (14%)*** | 11/140 (8%) |
| Wright (2011)42 | <50 | 33/214 (15%)** | 10/214 (4.6%) |
| Limburg (2011)43 | <50 | - | 11/195 (5.6%) |
| Steinhagen (2012)44 | <50 | 38/198 (19%)** | 10/198 (5.1%) |
| Tanskanen (2013)45 | <40 | 14/38 (37%)* | 12/38 (32%) |
| Mork (2015)46 | <35 | 45/205 (22%) | 23/205 (11%) |
| De Voer (2016)47 | <45 | - | 4/45 (9%) |
| DeRycke (2017)48 | <50 | - | 24/333 (7%) |
| Pearlman (2017)49 | <50 | 48/450 (10%) | 40/430 (9%) |
| Stoffel (2018)50 | <50 | 41/204 (20%) | 23/204 (11%) |
MMRd: tumor MMR deficiency tested by MSI (*), IHC of MMR proteins (**), or both (***).