Table 4 Founder mutations found in Latin America LS families

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