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Table 2 Summary of published data from Latin America LS families

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

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)

  1. 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