Table 2.
Summary of published data from Latin America LS families
| Latin America LS published databases | Number of families | Number of individuals | Age at CRC diagnosis (mean ± SD) | Age at endometrial cancer diagnosis (mean ± SD) | AMSII | Revised Bethesda | Other criteria | Path_MMR carriers (%) | Path_MMR non- carriers (%) | Path_MLH1 carriers (%) | Path_MSH2 carriers (%) | Path_MSH6 carriers (%) | Path_PMS2 carriers (%) | Path_EPCAM carriers (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendoza, Argentina [10] | 1 | 17 | na | na | 1 | 0 | 0 | 9(52.9) | 8(47.1) | 0 | 9100) | na | na | na |
| Sao, Paulo, Brazil [11] | 25 | 25 | 45.7(na) | na | 6 | 18 | 1 | 10(40) | 15(60) | 8(80) | 2(20) | na | na | na |
| Montevideo, Uruguay [13] | 12 | 12 | 45 | na | 12 | na | na | 3(25) | 9(75) | 2(67) | 1(33) | 0 | na | na |
| Bogota, Colombia [12, 48] | 23 | 23 | na | na | 11 | 12 | na | 11(47.8) | 12(52.2) | 10(91) | 1(9) | na | na | na |
| Buenos Aires, Argentina [17] | 43 | 11 | na | na | 43 | 0 | na | 5(45.5) | 6 (54.5) | 2(40) | 3(60) | na | na | na |
| Mexico, El Salvador and Guatemala [51] | 13 | 14 | 38.7(na) | na | 5 | 9 | na | 11(78.6) | 3(21.4) | 7(64) | 4 (36) | na | na | na |
| Santiago, Chile [20] | 21 | 20 | na | na | 14 | 7 | na | 9(45) | 11(55) | 6(30) | 3(15) | na | na | na |
| Antioquia, Colombia [23] | 1 | 20 | na | na | 1 | na | na | 7(35) | 13(65) | 7(100) | 0 | na | na | na |
| Southeastern Brazil, Buenos Aires and Montevideo [26] | 123 | 123 | na | na | 57 | 66 | na | 34(27.6) | 89(72.4) | 20(59) | 14(41) | na | na | na |
| Santiago, Chile [31] | 35 | 35 | na | na | 19 | 16 | na | 21(60) | 14(40) | 14(67) | 5(24) | 2(9) | na | na |
| South America [32] | 267 | 267 | 147 | 120 | na | 99(37.1) | 168(62.9) | 59(60) | 40(40) | na | na | na | ||
| Buenos Aires, Argentina | 28 | na | 44.3(6.2) | 46.3(5.5) | ||||||||||
| Montevideo, Uruguay | 25 | na | 35.1(7.6) | 41.5(8.3) | ||||||||||
| Santiago, Chile | 50 | na | 35.7(10.7) | 41.1(8.8) | ||||||||||
| Barretos, Brazil) | 23 | na | 39.4(13.8) | 49.8(5.3) | ||||||||||
| Colombia | 13 | na | na | na | ||||||||||
| Southeastern Brazil | 128 | na | 42.3(11.4) | 48.8(2.4) | ||||||||||
| Puerto Rico and Dominican Republic [36] | 78 | 31 | 44.4(na) | 44 (na) | na | na | na | 22(71) | 9 (29) | 8(36) | 13(59) | 1(5) | na | na |
| Southeastern Brazil [37] | 116 | 116 | 42.4(na) | 46 (na) | 49 | 67 | na | 45(38.8) | 71(61) | 15(33) | 25(56) | 4(9) | 1(2) | na |
| Jalisco, Mexico [44] | 3 | 5 | 37.7(na) | na | 3 | 0 | na | 5(100) | 0 | 4(80) | 1(20) | na | na | na |
| South America [47] | 243 | 243 | na | na | na | 98(40.3) | 145 (56.7) | 42(43) | 45(46) | 7(7) | 2(2) | 2(2) | ||
| Buenos Aires, Argentina | 48 | na | 44(na) | 45(na) | ||||||||||
| Montevideo, Uruguay | 16 | na | 42.3(na) | 48.8(na) | ||||||||||
| Santiago, Chile | 27 | na | 41.3(na) | 43.6(na) | ||||||||||
| Barretos, Brazil) | 23 | na | 39.4(na) | 49.8(na) | ||||||||||
| Colombia | 13 | na | na | na | ||||||||||
| Southeastern Brazil | 116 | na | 42.4(na) | 46(na) | ||||||||||
| Total | 1514 | 962 | 368 | 315 | 1 | 389 (40.4) | 573 (59.6) | 204 (52.4) | 166 (42.7) | 14 (3.6) | 3 (0.8) | 2 (0.5) |
LS: Lynch syndrome; CRC: colorectal cancer; MMR: mismatch repair; SD: standard deviation; na: not applied; Path_MMR: Pathogenic (disease-causing) variant of an MMR gene; path_MLH1: pathogenic variant of the MLH1 gene; path_MSH2: pathogenic variant of the MSH2 gene; path_MSH6: pathogenic variant of the MSH6 gene; path_PMS2: pathogenic variant of the PMS2 gene