Page 96 - Genomic Medicine in Emerging Economies

Path_ EPCAM Carri- ers (%) NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2(2) 2 (0.5)

Path_ PMS2 Carriers (%) NA NA NA NA NA NA NA NA NA NA NA NA 1(2) NA 2(2) 3 (0.8)

Path_MSH6 Carriers (%) NA NA 0 NA NA NA NA NA NA 2(9) NA 1(5) 4(9) NA 7(7) 14 (3.8)

Path_ MSH2 Carriers (%) 1 (100) 2(20) 1 (33) 1 (9) 3 (60) 4 (36) 3(33) 0 14(41) 5(24) 40(40) 13(59) 25(56) 1(33) 45(46) 158 (42.4)

Path_ MLH1 Car- riers (%) 0 8(80) 2(67) 10(91) 2(40) 7(64) 6(67) 1(100) 20(59) 14(67) 59(60) 8(36) 15(33) 2(67) 42(43) 196 (52.5)
Summary of Published Data From Latin America Lynch Syndrome Spectrum

Families With Mutation Revised Bethesda AMS NA 1 7 3 NA 3 2 9 NA 5 6 5 2 7 NA 1 9 25 3 18 18 81 10 12 13 31 NA 3 NA NA 70 204 AMS, Amsterdam criteria; MMR, mismatch repair; N, number; path_MLH1, pathogenic (disease-causing) variant of the MLH1 gene; Path_MMR, pathogenic (disease-causing) variant of an MMR gene; path_MSH2, pathogenic (disease-causing) variant of the MSH2 gen

Other Criteria NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA 1

Selection Criteria Revised Bethesda AMS NA 1 18 6 NA 12 12 11 NA 11 7 5 7 14 NA 1 66 57 16 19 120 147 70 19 67 49 NA 3 NA NA 383 355

(families/ patients)

N 1 25 12 23 11 12 21 1 123 35 267 89 116 3 243 982 (disease-causing) variant of the PMS2 gene.

Table 5.4 Study Population Argentina Viana et al. (2008) Brazil Ashton-Prolla and Seuanez (2016) Uruguay Rossi et al. (2002) Colombia Roque et al. (2000) Argentina Clarizia et al. (2006) Mexico, El Salvador and Guatemala Ortiz et al. (2016) Chile Vaccaro et al. (2007a) Colombia De Jesus-Monge et al. (2010) Southeastern Brazil, Buenos Aires and Montevideo Egoavil et al. (2011) Chile Santos et al