Skip to main content

Table 4 Founder mutations found in Latin America LS families

From: A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

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
  1. LS Lynch syndrome
\