Table 4.
Founder mutations found in Latin America LS families
| Gene | Founder mutation | Total number of LS families (references) | Origin (comments) |
|---|---|---|---|
| MLH1 | c.306 + 5G > A | 1 in Brazil [61] | Spain |
| MLH1 | c.545 + 3A > G | 2 in Brazil [75] | Italy |
| MLH1 | c.1039-8T_1558 + 896Tdup | 2 in Colombia [23] | (no haplotype studies were performed) |
| MLH1 | c.1558 + 1G > T | 1 in Brazil [65] | Italy |
| MLH1 | c.1732-?_1896 +?del | 1 in Brazil [66, 72] | Finland |
| MLH1 | c.1897-?_2271 +?del | 4 in Brazil [70, 68] | Portugal (mutation with an estimated age of 283 years) |
| MLH1 | c.2044_2045del | 2 in Puerto Rico [34, 36] | Puerto Rico |
| MLH1 | c.2252_2253delAA | 1 in Argentina [40] | Italy (Northern region) |
| MSH2 | c.(?_-68)_1076 +?del | 1 in Argentina[63, 71, 73] | Italy and North America |
| MSH2 | c.388_389del | 2 in Argentina and 1 in Brazil [69] | Portugal |
| MSH2 | c.942 + 3A > T | 2 in Brazil [64] | Newfoundland (considered a world-wide MSH2 variant) |
| MSH2 | c.1077-?_1276 +?del | 1 in Argentina, 1 in Uruguay and 1 in Brazil [67] | Spain (Alu-mediated rearrangements) |
| MSH2 | c.1165C > T | 1 in Colombia [62] | French Canada |
| MSH2 | c.1277-?_1386 +?del | 1 in Brazil [60] | Italy (Sardinia) |
| MSH2 | c.2185_2192del7insCCCT | 1 in Chile [20] | Amerindian |
| MSH6 | c.2983G > T | 1 in Brazil [74] | Finland |
LS Lynch syndrome