Background
Methods
Hereditary cancer registries
LS databases
Germline DNA testing
Tumor testing
Family history
MMR variants nomenclature and classification
Splicing-dedicated bioinformatics analysis
Statistical analysis
Results
Path_MMR variants
Latin American Institutions | Number of families | Number of individuals | Families fulfillinga
| Path_MMR carriers (%) | Path_MMR families fulfilling | 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 | AMSII | Revised Bethesda | Other criteria | |||||
Barretos Cancer Hospital (São Paulo, Brazil) | 125 | 369 | 15 | 95 | 30 | 172 (46.6) | 197 (53.4) | 79 (45.9) | 51 (29.7) | 32 (18.6) | 10 (5.8) | 0 | 12 | 48 | 10 | na | na |
Clinica Las Condes (Santiago, Chile) | 100 | 212 | 44 | 47 | 9 | 82 (38.7) | 130 (61.3) | 63 (76.8) | 14 (17.1) | 0 | 2 (2.4) | 3 (3.7) | 24 | 4 | 0 | 40 (10.5) | 48.8 (11.5) |
Hospital de las Fuerzas Armadas (Montevideo, Uruguay) | 29 | 177 | 26 | 1 | 2 | 101 (57.1) | 76 (42.9) | 55 (54.5) | 39 (38.6) | 7 (6.9) | 0 | 0 | 19 | 0 | 0 | 39.9 (9.6) | 44.4 (11.9) |
Hospital Italiano (Buenos Aires, Argentina) | 54 | 75 | 35 | 14 | 5 | 26 (34.7) | 49 (65.3) | 11 (42.3) | 15 (57.7) | 0 | 0 | 0 | 18 | 0 | 0 | 45.8 (7.01) | 43.8 (7.08) |
Hospital Español de Rosario (Rosario, Argentina) | 13 | 25 | 6 | 7 | 0 | 16 (64) | 9 (36) | 5 (31.3) | 10 (62.5) | 0 | 1 (6.2) | 0 | 6 | 2 | 0 | 40.4 (10.4) | 51 (na) |
Hospital das Clinicas (Porto Alegre, Brazil) | 18 | 18 | 12 | 6 | 0 | 11(61.1) | 7 (38.9) | 8 (72.7) | 3 (27.3) | 0 | na | 0 | 11 | 0 | 0 | 42.1 (7.8) | na |
Clinica del Country (Bogota, Colombia) | 5 | 5 | 4 | 0 | 1 | 2 (40) | 3 (60) | 0 | 1 (50) | 0 | 1 (50) | 0 | 1 | 0 | 1 | 32 (na) | na |
Total | 344 | 881 | 142 | 170 | 47 | 410 (46.5) | 471 (53.5) | 221 (53.9) | 133 (32.4) | 39 (9.5) | 14 (3.4) | 3 (0.8) | 91 | 54 | 11 |
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 |
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) |
Latin America MMR variants
Gene | cNomenclature | pNomenclature | Exon | Reported/Current Study classification | References | Country | Number of families | RNA splicing-dedicated in silico analysis | ||
---|---|---|---|---|---|---|---|---|---|---|
WT MaxEntScan score | Variant MaxEntScan score | Difference in MaxEntScan score between variant and WT (%) | ||||||||
MLH1
| c.(?_-198)_116 +?del | 1 | Class 5 | InSIGHT | Chile | 2 | nd | nd | nd | |
c.83C > T | p.Pro28Leu | 1 | Class 5 | InSIGHT | Brazil | 2 | 8.60 | 8.60 | 0 | |
c.91_92delinsTG | p.Ala31Cys | 1 | Class 3 | InSIGHT | Uruguay | 1 | 8.60 | 8.60 | 0 | |
c.116G > A | p.Cys39Tyr | 1 | Class 4 | InSIGHT | Argentina | 1 | 8.60 | 2.61 | −70 | |
c.117-1G > T | 1i | Class 5 | HGMD | Brazil | 1 | 7.22 | 0.00 | −100 | ||
c.117-?_207 +?del | p.Cys39*
| 2 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
c.117-691_306 + 1011del | p.Cys39Trpfs*6 | 2–3 | Class 5 | InSIGHT | Mexico | 1 | 7.22 | 7.22 | 0 | |
c.119delT | p.Leu40*
| 2 | Class 5 | InSIGHT | Uruguay | 1 | 7.22 | 7.25 | 0 | |
c.122A > G | p.Asp41Gly | 2 | Class 3 | InSIGHT | Brazil | 1 | 7.22 | 7.22 | 0 | |
c.199G > A | p.Gly67Arg | 2 | Class 5 | InSIGHT | Argentina | 1 | 10.45 | 10.45 | 0 | |
c.211G > T | p.Glu71*
| 3 | Class 5 | InSIGHT | Brazil | 1 | 8.11 | 8.11 | 0 | |
c.225delT
| p.Ile75Metfs | 3 | Not reported/Class 5 | Current study | Brazil | 1 | 8.11 | 8.11 | 0 | |
c.289 T > G | p.Tyr97Asp | 3 | Class 3 | 32 | Uruguay | 2 | 9.85 | 9.85 | 0 | |
c.306 + 5G > A | 3i | Class 5 | UMD, HGMD | Brazil | 1 | 9.85 | 7.20 | −27 | ||
c.307-2A > G | 1i | Class 5 | UMD (modified from 51) | Guatemala | 1 | 10.90 | 0.00 | −100 | ||
c.332C > T | p.Ala111Val | 4 | Class 4 | InSIGHT | Brazil | 1 | 10.90 | 10.90 | 0 | |
C.336 T > A | p.His112Gln | 4 | Class 3 | 32 | Argentina | 1 | 10.90 | 10.90 | 0 | |
c.350C > T | p.Thr117Met | 4 | Class 5 | InSIGHT | Uruguay, Argentina | 5 | 8.73 | 8.73 | 0 | |
c.421C > G | p.Pro141Ala | 5 | Class 3 | 12 | Colombia | 1 | 10.65 | 10.65 | 0 | |
c.454-501_546-1098del | p.Glu153Phefs*8 | 5i | Class 5 | InSIGHT | Uruguay | 1 | 6.39 | 6.39 | 0 | |
c.503dupA | p.Asn168Lysfs*4 | 6 | Class 5 | InSIGHT | Chile | 1 | 8.68 | 8.68 | 0 | |
c.503delA | p.Glu172Asnfs*30 | 6 | Class 5 | 32 | Brazil | 1 | 8.68 | 8.68 | 0 | |
c.545 + 3A > G | p.Glu153Valfs*9 | 6i | Class 5 | InSIGHT | Brazil | 2 | 8.68 | 4.95 | −43 | |
c.588 + 2 T > Ab
| 7i | Class 4 | 26 | Brazil | 1 | 9.72 | 0.00 | −100 | ||
c.588 + 5G > C | 7i | Class 3 | InSIGHT | Brazil | 1 | 9.72 | 4.33 |
−55
| ||
c.588 + 5G > T
| 7i | Not reported | Current study | Argentina | 1 | 9.72 | 3.64 |
−63
| ||
c.665delA | p.Asn222Metfs*7 | 8 | Class 5 | InSIGHT | Uruguay | 4 | 9.22 | 9.22 | 0 | |
c.676C > T | p.Arg226*
| 8 | Class 5 | InSIGHT | Argentina, Mexico | 2 | 9.22 | 7.12 | −23 | |
c.677G > Ac
| p.Gln197Argfs*8 | 8 | Class 5 | InSIGHT | Argentina, Brazil | 2 | 9.22 | 5.00 | −46 | |
c.677 + 1G > A | 8i | Class 4 | InSIGHT | Brazil | 2 | 9.22 | 0.00 | −100 | ||
c.677 + 5G > A | 8i | Class 4 | UMD | Chile, Argentina | 2 | 9.22 | 4.42 | −52 | ||
c.779 T > G | p.Leu260Arg | 9 | Class 5 | InSIGHT | Brazil | 1 | 10.43 | 10.43 | 0 | |
c.790 + 1G > A | p.Glu227_Ser295del | 9i | Class 5 | InSIGHT | Chile, Colombia | 3 | 10.43 | 0.00 | −100 | |
c.791–4_795delTTAGATCGT | 10 | Class 5 | 26 | Brazil | 2 | 9.42 | 0.00 | −100 | ||
c.794G > C
d
| p.Arg265Pro | 10 | Not reported | 80 | Chile | 1 | 9.42 | 9.42 | 0 | |
c.884 + 5 T > C
| 10i | Not reported | Current study | Argentina | 1 | 9.43 | 10.52 | 12 | ||
c.888_890delAGAinsC
| p.Leu296Phefs | 11 | Not reported/Class 5 | Current study | Brazil | 1 | 10.46 | 10.46 | 0 | |
c.901C > T | p.Gln301*
| 11 | Class 5 | InSIGHT | Chile | 1 | 10.46 | 10.46 | 0 | |
c.911delA
| p.Asp304Valfs*63 | 11 | Not reported/Class 5 | Current study | Uruguay | 1 | 10.46 | 10.46 | 0 | |
c.997_1000delAAGC | p.Lys333Serfs*33 | 11 | Class 5 | 78 | Chile | 1 | 7.20 | 7.20 | 0 | |
c.1013A > G | p.Asn338Ser | 11 | Class 3 | InSIGHT | Brazil | 1 | 7.20 | 7.20 | 0 | |
c.1023delG | p.Met342Cysfs*25 | 11 | Class 5 | InSIGHT | Puerto Rico | 2 | 7.20 | 7.20 | 0 | |
c.1038 + 1G > T | p.Thr347PhefsX14 | 11i | Class 5 | 31 | Chile | 1 | 7.20 | 0.00 | −100 | |
c.1039-6delT
| 11i | Not reported | Current study | Argentina | 2 | 7.50 | 9.13 | 22 | ||
c.1039-8T_1558?896Tdup | p.520Vfs564X | 12–13 | Class 5 | 23 | Colombia | 2 | nd | nd | nd | |
c.1105dupT | 12 | Class 5 | Modified from 51 | Mexico | 1 | 7.50 | 7.50 | 0 | ||
c.1225_1259del | p.Gln409*
| 12 | Class 5 | UMD | Mexico | 1 | 9.99 | 9.99 | 0 | |
c.1276C > T | p.Gln426*
| 12 | Class 5 | InSIGHT | Brazil | 7 | 9.99 | 9.99 | 0 | |
c.1333C > T | p.Gln445*
| 12 | Class 5 | 68 | Brazil | 1 | 9.99 | 9.99 | 0 | |
c.1360G > C | p.Gly454Arg | 12 | Class 3 | InSIGHT | Uruguay | 1 | 9.99 | 9.99 | 0 | |
c.1459C > T | p.Arg487*
| 13 | Class 5 | InSIGHT | Brazil | 1 | 11.66 | 11.66 | 0 | |
c.1500_1502delCATc,d
| p.Ile501del | 13 | Class 3 | 11 | Brazil | 1 | 9.15 | 9.15 | 0 | |
c.1558 + 1G > T | p.Val520Glyfs*3 | 13i | Class 5 | InSIGHT | Brazil | 1 | 9.15 | 0.00 | −100 | |
c.1559-2A > Cb
| p.Leu521Lysfs*34 | 13i | Class 4 | InSIGHT | Chile | 1 | 10.44 | 0.00 | −100 | |
c.1559-?_1731 +?del | p.Val520Glyfs*7 | 14–15 | Class 5 | 31 | Chile | 1 | nd | nd | nd | |
c.1639_1643dupTTATA | p.Leu549Tyrfs*44 | 14 | Class 5 | InSIGHT | Brazil | 1 | 6.62 | 6.62 | 0 | |
c.1681dupT
| p.Tyr561Leufs | 11 | Not reported/Class 5 | Current study | Brazil | 1 | 8.17 | 8.17 | 0 | |
c.1690_1693delCTCA | p.Leu564PhefsTer26 | 15 | Class 5 | InSIGHT | Brazil | 1 | 8.17 | 8.17 | 0 | |
c.1724G > A | p.Arg575Lys | 15 | Class 3 | 32 | Argentina | 1 | 11.78 | 11.78 | 0 | |
c.1731 + 3A > Tb
| p.(Ser556Argfs*14) | 15i | Class 4 | 20 | Chile | 1 | 11.78 | 5.63 | −52 | |
c.1732-?_1896 +?del | p.Pro579_Glu633del | 16–17 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
c.1763 T > C | p.Leu588Pro | 16 | Class 3 | InSIGHT | Chile | 1 | 9.34 | 9.34 | 0 | |
c.1852_1854 delAAGd
| p.Lys618del | 16 | Class 5 | InSIGHT | Argentina, El Salvador, Mexico | 6 | 3.51 | 3.51 | 0 | |
c.1853delAinsTTCTT | p.Lys618Ilefs*4 | 16 | Class 5 | 26 | Brazil | 2 | 3.51 | 3.51 | 0 | |
c.1855delGd
| p.Ala619Leufs*18 | 16 | Class 5 | 12, 36 | Colombia, Puerto Rico | 3 | 3.51 | 3.51 | 0 | |
c.1863delG
| p.Met621Ilefs | 16 | Not reported/Class 5 | Current study | Brazil | 1 | 3.51 | 3.51 | 0 | |
c.1890dupc
| p.Asp631*
| 16 | Class 3 | 26 | Argentina | 1 | 3.51 | 3.51 | 0 | |
c.1897-?_1989 +?del | p.Glu633_Glu663del | 17 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
c.1897-?_2271 +?del | 17–19 | Class 5 | InSIGHT | Brazil | 4 | nd | nd | nd | ||
c.1918C > T | p.Pro640Ser | 17 | Class 3 | InSIGHT | Colombia | 1 | 6.53 | 6.53 | 0 | |
c.1975C > T | p.Arg659*
| 17 | Class 5 | InSIGHT | Brazil | 2 | 7.70 | 7.70 | 0 | |
c.1990–93 C > T
| 17i | Not reported | Current study | Argentina | 1 | 5.34 | 5.34 | 0 | ||
c.1998G > A | p.Trp666*
| 18 | Class 5 | 11 | Brazil | 1 | 5.34 | 5.34 | 0 | |
c.2027 T > Cc
| p.Leu676Pro | 18 | Class 3 | 26 | Brazil | 1 | 5.34 | 5.34 | 0 | |
c.2041G > A*
| p.Ala681Thr | 18 | Class 5 | UMD | Chile, Brazil, Colombia | 7 | 5.34 | 5.34 | 0 | |
c.2044_2045del | p.Met682Valfs*11 | 18 | Class 5 | 34, 36 | Puerto Rico | 2 | 5.34 | 5.34 | 0 | |
c.2059C > T | p.Arg687Trp | 18 | Class 5 | InSIGHT | Brazil | 1 | 8.68 | 8.68 | 0 | |
c.2093C > G | p.Ser698*
| 18 | Class 5 | InSIGHT | El Salvador | 1 | 8.68 | 8.68 | 0 | |
c.2092_2093delTC | p.Ser698Argfs*5 | 18 | Class 5 | 20 | Chile | 1 | 8.68 | 8.68 | 0 | |
c.2103 + 1G > C | 18i | Class 4 | InSIGHT | Mexico | 1 | 8.68 | 0.00 | −100 | ||
c.2104-?_(*193_?)del | p.S702_X757del | 19 | Class 5 | 31 | Chile | 2 | nd | nd | nd | |
c.2224C > T | p.Gln742*
| 19 | Class 5 | 26 | Brazil | 1 | 7.82 | 7.82 | 0 | |
c.2252_2253dupAA | p.Val752Lysfs*32 | 19 | Class 3 | InSIGHT | Brazil | 1 | 7.82 | 7.82 | 0 | |
c.2252_2253delAA | p.Lys751Serfs*3 | 19 | Class 5 | InSIGHT | Argentina | 1 | 7.82 | 7.82 | 0 | |
MSH2
|
c.
*
32 G > C
| 3’UTR | Not reported | Current study | Argentina | 1 | 6.11 | 6.11 | 0 | |
c.71delA | p.Gln24Argfs*40 | 1 | Class 5 | 32 | Brazil | 1 | 10.07 | 10.07 | 0 | |
c.96dupC
| p.Thr33Hisfs*49 | 1 | Not reported/Class 5 | Current study | Brazil | 1 | 10.07 | 10.07 | 0 | |
c.112G > T
| p.Asp38Tyr | 1 | Not reported | Current study | Chile | 1 | 10.07 | 10.07 | 0 | |
c.138C > G | p.His46Gln | 1 | Class 3 | InSIGHT | Uruguay | 1 | 10.07 | 10.07 | 0 | |
c.166G > T | p.Glu56* | 1 | Class 5 | InSIGHT | Argentina | 1 | 10.07 | 10.07 | 0 | |
c.174dupCd
| p.Lys59Glnfs*23 | 1 | Class 5 | 32 | Brazil | 3 | 10.07 | 10.07 | 0 | |
c.181C > T | p.Gln61* | 1 | Class 5 | 13 | Uruguay | 1 | 10.07 | 10.07 | 0 | |
c.187delG | p.Val63* | 1 | Class 5 | InSIGHT | Brazil | 1 | 10.07 | 10.07 | 0 | |
c.(?_-68)_211 +?del | 1 | Class 5 | InSIGHT | Argentina | 1 | nd | nd | nd | ||
c.(?_-68)_645 +?del | 1–3 | Class 5 | InSIGHT | Puerto Rico | 2 | nd | nd | nd | ||
c.(?_-68)_1076 +?del | 1–6 | Class 5 | InSIGHT | Argentina | 1 | nd | nd | nd | ||
c.212-?_366 +?del | p.Ala72Phefs*9 | 2 | Class 5 | InSIGHT | Chile | 1 | nd | nd | nd | |
c.226C > T | p.Gln76* | 2 | Class 5 | InSIGHT, UMD | Mexico | 1 | 8.51 | 8.51 | 0 | |
c.229_230delAG | p.Ser77Cysfs*4 | 2 | Class 5 | InSIGHT | Uruguay | 1 | 8.51 | 8.51 | 0 | |
c.289C > T | p.Gln97* | 2 | Class 5 | InSIGHT | Argentina | 1 | 8.83 | 8.83 | 0 | |
c.367-168C > T
| 2i | Not reported | Current study | Argentina | 2 | 6.25 | 6.25 | 0 | ||
c.388_389delCA | p.Gln130Valfs*2 | 3 | Class 5 | InSIGHT | Brazil, Argentina | 3 | 6.25 | 6.25 | 0 | |
c.425C > G | p.Ser142* | 3 | Class 5 | InSIGHT | Guatemala | 1 | 6.25 | 6.25 | 0 | |
c.435 T > G | p.Ile145Met | 3 | Class 3 | InSIGHT | Argentina | 1 | 6.25 | 6.25 | 0 | |
c.458C > G | p.Ser153Cys | 3 | Class 3 | 37 | Brazil | 1 | 6.25 | 6.25 | 0 | |
c.484G > A | p.Gly162Arg | 3 | Class 5 | InSIGHT | Argentina | 1 | 6.25 | 6.25 | 0 | |
c.518 T > G | p.Leu173Arg | 3 | Class 3 | InSIGHT | Brazil | 1 | 9.88 | 9.88 | 0 | |
c.528_529delTG | p.Cys176* | 3 | Class 5 | InSIGHT | Brazil | 1 | 9.88 | 9.88 | 0 | |
c.530_531delAA | p.Glu177Valfs*3 | 3 | Class 5 | 13 | Uruguay | 1 | 9.88 | 9.88 | 0 | |
c.557A > G | p.Asn186Ser | 3 | Class 3 | UMD | Uruguay | 1 | 9.88 | 9.88 | 0 | |
c.596delTG | p.Cys199Leufs*15 | 3 | Class 5 | 12 | Colombia | 1 | 9.88 | 9.88 | 0 | |
c.638dupT
| p.Leu213fs | 3 | Not reported | 44 | Mexico | 1 | 9.88 | 9.88 | 0 | |
c.645 + 1_645 + 10delins15
| 3 | Not reported/Class 5 | Current study | Brazil | 1 | 9.88 | 0.00 | −100 | ||
c.645 + 791_1076 + 4894del | p.Ile217Glufs*28 | 4–6 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
c.711_727del17
| p.Ile237Metfs*13 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 7.79 | 7.79 | 0 | |
c.862C > T | p.Gln288* | 5 | Class 5 | InSIGHT | Brazil | 1 | 10.35 | 10.35 | 0 | |
c.876_877insC | 5 | Class 5 | Modified from 36 | Puerto Rico | 1 | 8.59 | 8.59 | 0 | ||
c.897 T > G | p.Tyr299* | 5 | Class 5 | 31 | Chile | 1 | 8.59 | 8.59 | 0 | |
Amplification of exon 5 | 5 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | ||
c.905 T > A | p.Leu302* | 5 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.59 | 8.59 | 0 | |
c.914_923delCAGCAGTCAG
| p.Ala305Glufs*23 | 5 | Not reported/Class 5 | Current study | Argentina | 1 | 8.59 | 8.59 | 0 | |
c.942 + 3A > T | p.Val265_Gln314del | 5i | Class 5 | InSIGHT | Brazil | 2 | 8.59 | 2.54 | −70 | |
c.943-1G > T | 5i | Class 5 | Modified from 36 | Puerto Rico | 2 | 9.59 | 0 | −100 | ||
c.1046C > G | p.Pro349Arg | 6 | Class 5 | InSIGHT | Argentina | 1 | 9.81 | 9.81 | 0 | |
c.1076 + 1_1076 + 2delGT
| 6i | Not reported/Class 5 | Current study | Brazil | 1 | 9.81 | 0.00 | −100 | ||
c.1077-?_1276 +?del | p.Leu360Lysfs*16 | 7 | Class 5 | InSiGHT | Argentina; Uruguay; Brazil | 3 | nd | nd | nd | |
c.1077-135_1276 + 119dup | 7 | Class 5 | InSiGHT | Brazil | 1 | 8.92 | 8.92 | 0 | ||
c.1143_1144insA | p.Arg382Thrfs*7 | 7 | Class 5 | 37 | Brazil | 1 | 5.25 | 5.25 | 0 | |
c.1147C > T | p.Arg382* | 7 | Class 5 | InSIGHT | Brazil | 1 | 5.25 | 5.25 | 0 | |
c.1165C > T | p.Arg389* | 7 | Class 5 | InSIGHT | Colombia | 1 | 5.25 | 5.25 | 0 | |
c.1215C > A | p.Tyr405* | 7 | Class 5 | InSIGHT | Chile | 1 | 8.92 | 8.92 | 0 | |
c.1216C > T | p.Arg406* | 7 | Class 5 | InSIGHT | Uruguay | 1 | 8.92 | 8.92 | 0 | |
c.1224 T > A
| p.Tyr408* | 7 | Not reported/Class 5 | InSIGHT | Argentina | 1 | 8.92 | 8.92 | 0 | |
c.1226_1227delAG | p.Gln409Argfs*7 | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
c.1249delG | p.Val417Leufs*21 | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
c.1255C > T | p.Gln419* | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
c.1277-?_1386 +?del | p.Lys427Glyfs*4 | 8 | Class 5 | InSiGHT | Brazil | 1 | nd | nd | nd | |
c.1308dupT | 8 | Class 5 | Modified from 36 | Puerto Rico | 1 | 10.12 | 10.12 | 0 | ||
c.1444A > T | p.Arg482* | 9 | Class 5 | 26 | Brazil | 2 | 11.59 | 11.59 | 0 | |
c.1447G > T | p.Glu483* | 9 | Class 5 | InSIGHT | Brazil | 1 | 11.59 | 11.59 | 0 | |
c.1457_1460del | p.Asn486Thrfsx10 | 9 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.85 | 8.85 | 0 | |
c.1662-2A > G | 10i | Class 4 | UMD, InSIGHT | Argentina | 1 | 8.01 | 0.00 | −100 | ||
c.1667delT | p. Leu556* | 11 | Class 5 | 26 | Brazil | 1 | 8.01 | 8.01 | 0 | |
c.1667_1668insA | p.Thr557Aspfs*5 | 11 | Class 5 | 11 | Brazil | 1 | 8.01 | 8.01 | 0 | |
c.1705_1706delGA | p.Glu569Ilefs*2 | 11 | Class 5 | InSIGHT | Brazil, Puerto Rico | 2 | 8.01 | 8.01 | 0 | |
c.1738G > T | p.Glu580* | 11 | Class 5 | InSIGHT | Brazil | 1 | 7.82 | 7.82 | 0 | |
c.1759 + 1G > A | 11i | Class 4 | InSIGHT | Puerto Rico | 1 | 7.82 | 0.00 | −100 | ||
c.1759 + 57G > T
| 11i | Not reported | Current study | Argentina | 1 | 7.82 | 7.82 | 0 | ||
c.1777C > T | p.Gln593* | 12 | Class 5 | InSIGHT, UMD | Mexico | 1 | 9.05 | 9.05 | 0 | |
c.1786_1788delAAT | p.Asn596del | 12 | Class 5 | InSIGHT | Brazil | 1 | 9.05 | 9.05 | 0 | |
c.1861C > T | p.Arg621* | 12 | Class 5 | InSIGHT, UMD | Argentina, Brazil | 2 | 9.05 | 9.05 | 0 | |
c.1864C > A | p.Pro622Thr | 12 | Class 3 | 14 | Argentina | 1 | 9.05 | 9.05 | 0 | |
c.1865C > G
| p.Pro622Arg | 12 | Not reported | InSIGHT | Argentina | 1 | 9.05 | 9.05 | 0 | |
c.1911delCd
| p.Arg638Glyfs*47 | 12 | Class 5 | 17 | Argentina | 1 | 4.78 | 4.78 | 0 | |
c.1967_1970dupACTT | p.Phe657Leufs*3 | 12 | Class 5 | 26 | Brazil | 1 | 4.78 | 4.78 | 0 | |
c.2038C > T | p.Arg680* | 13 | Class 5 | InSIGHT | Chile | 1 | 8.23 | 8.23 | 0 | |
c.2046_2047delTG | p.Val684AspfsX14 | 13 | Class 5 | InSIGHT | Argentina | 1 | 8.23 | 8.23 | 0 | |
c.2078G > A
| p.Cys693Tyr | 13 | Not reported | Current study | Brazil | 1 | 8.23 | 8.23 | 0 | |
c.2131C > T | p.Arg711* | 13 | Class 5 | InSIGHT | Argentina, Brazil, Chile | 4 | 10.86 | 10.86 | 0 | |
c.2145del | p.Asp716Thrfs*4 | 13 | Class 5 | 37 | Brazil | 1 | 10.86 | 10.86 | 0 | |
c.2152C > T | p.Gln718* | 13 | Class 5 | InSIGHT | Brazil | 9 | 10.86 | 10.86 | 0 | |
c.2178_2179insA | 13 | Class 5 | Modified from 51 | Mexico | 1 | 10.86 | 10.86 | 0 | ||
c.2185_2192del7insCCCT | p.M729_E731delinsP729_X730 | 13 | Class 5 | 20 | Chile | 1 | 10.86 | 10.86 | 0 | |
c.2187G > T | p.Met729Ile | 13 | Class 3 | 26 | Brazil | 1 | 10.86 | 10.86 | 0 | |
c.2211-?_2458 +?del | p.Ser738Cysfs*3 | 14 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
c.2525_2526delAG | p.Glu842Valfs*3 | 15 | Class 5 | 26 | Brazil | 2 | 9.97 | 9.97 | 0 | |
c.2785C > T | p.Arg929* | 16 | Class 5 | 26 | Brazil, Uruguay | 2 | 6.11 | 6.11 | 0 | |
EPCAM-MSH2
|
EPCAM-MSH2 (exon1–4) deletion | 1–4 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | |
c.583C > G
| p.Leu195Val | 6 | Not reported | Current study | Uruguay | 1 | nd | nd | nd | |
c.555 + 402_*1220del
| 6–9 | Not reported/Class 5 | LOVD | Chile | 1 | nd | nd | nd | ||
EPCAM:c.(?_1)_(945_?)_MSH2:c.(?_1)_(1076_?) | 1–6 | Class 5 | 31 | Chile | 1 | nd | nd | nd | ||
MSH6
|
c.23_26delACAG
| p.Tyr8SerfsTer8 | 1 | Not reported/Class 5 | Current study | Brazil | 1 | 7.38 | 7.38 | 0 |
c.44C > T | p.Pro15Leu | 1 | Class 3 | ClinVar | Uruguay | 1 | 7.38 | 7.38 | 0 | |
c.124C > T | p.Pro42Leu | 1 | Class 3 | 37 | Brazil | 1 | 7.38 | 7.38 | 0 | |
c.457 + 32del
| 2i | Not reported | Current study | Argentina | 1 | 10.77 | 10.77 | 0 | ||
c.458-?_3172del | p.Gly153_Leu1057del | 3–4 | Class 5 | 32 | Uruguay | 1 | nd | nd | nd | |
c.663A > C | p.Glu221Asp | 4 | Class 3 | InSIGHT | Uruguay; Argentina | 2 | 10.87 | 10.87 | 0 | |
c.733A > T*
| p.Ile245Leu | 4 | Conflicting interpretations of pathogenicity | UMD, Insight | Uruguay | 1 | 10.87 | 10.87 | 0 | |
c.1133_1134delGA
| p.Arg378Lysfs*3 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 10.87 | 10.87 | 0 | |
c.1338A > T | p.Glu446Asp | 4 | Class 3 | 37 | Brazil | 1 | 10.87 | 10.87 | 0 | |
c.1483C > T | p.Arg495* | 4 | Class 5 | InSIGHT | Brazil | 1 | 10.87 | 10.87 | 0 | |
c.1519dupA | p.Arg507Lysfs*9 | 4 | Class 5 | UMD | Brazil | 2 | 10.87 | 10.87 | 0 | |
c.1591C > A | p.Pro531Thr | 4 | Class 3 | UMD, ClinVAr | Uruguay | 1 | 10.87 | 10.87 | 0 | |
c.1913delInsAGA
| p.Leu638GlnfsX11 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.1932G > C | p.Arg644Ser | 4 | Class 3 | 37 | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.2194C > T | p.Arg732* | 4 | Class 5 | InSIGHT | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.2308_2312delinsT | p.Gly770Cysfs*4 | 4 | Class 5 | UMD | Uruguay | 1 | 8.91 | 8.91 | 0 | |
c.2332_2335dupCTTT
| p.Cys779Serfs | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.2379_2380delTG | p.Ala794Hisfs*9 | 4 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | |
c.2659delC
| p.Lys888Serfs*18 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.2983G > T | p.Glu995* | 4 | Class 5 | InSIGHT | Brazil | 1 | 8.91 | 8.91 | 0 | |
c.3023C > T
| p.Thr1008Ile | 4 | Not reported | Current study | Argentina | 1 | 8.91 | 8.91 | 0 | |
c.3119_3120delTT | p.Phe1040* | 4 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.91 | 8.91 | 0 | |
c.3487G > T | p.Glu1163* | 6 | Class 5 | 37 | Brazil | 1 | 10.55 | 10.55 | 0 | |
c.3557-144G > A
| 6i | Not reported | Current study | Argentina | 8 | 10.29 | 10.29 | 0 | ||
c.3557-185C > T
| 6i | Not reported | Current study | Argentina | 1 | 10.29 | 10.29 | 0 | ||
c.3632 T > C | p.Leu1211Pro | 7 | Class 5 | InSIGHT | Brazil | 1 | 9.14 | 9.14 | 0 | |
c.3646 + 91 T > C
| 6 | Not reported | Current study | Argentina | 1 | nd | nd | nd | ||
c.3772C > G
| p.Gln1258Glu | 8 | Not reported | Current study | Brazil | 1 | 8.35 | 8.35 | 0 | |
c.3974_3976delAGA | p.K1325del | 9 | Class 3 | 37 | Brazil | 1 | 6.25 | 6.25 | 0 | |
c.4071ins4 | 10 | Class 3 | 51 | Mexico | 1 | nd | nd | nd | ||
PMS2
| c.23 + 72C > T | 1i | Class 3 | InSIGHT | Argentina | 5 | 8.70 | 8.70 | 0 | |
c.537 + 187A > G
| 5i | Not reported | Current study | Argentina | 4 | 8.04 | 8.04 | 0 | ||
c.697C > T | p.Gln233* | 6 | Class 5 | InSIGHT | Brazil | 1 | 6.13 | 6.13 | 0 | |
c.804-1G > T
| 8i | Not reported/Class 5 | Current study | Colombia | 1 | 3.54 | 0.00 | −100 | ||
c.903 + 84 C > T
| 8i | Not reported | Current study | Argentina | 1 | 7.64 | 7.64 | 0 | ||
c.903 + 100 T > G
| 8i | Not reported | Current study | Argentina | 1 | 7.64 | 7.64 | 0 | ||
c.903 + 144G > T
| 8i | Not reported | Current study | Argentina | 4 | 7.64 | 7.64 | 0 | ||
c.1004A > G | p.Asn335Ser | 10 | Class 3 | ClinVar | Uruguay | 1 | 10.00 | 10.00 | 0 | |
c.1144G > C | p.Gly382Arg | 10 | Class 3 | 37 | Brazil | 1 | 10.57 | 7.69 | −27 | |
c.1211C > G | p.Pro404Arg | 11 | Class 3 | 37 | Brazil | 1 | 7.77 | 7.77 | 0 | |
c.1239dup | p.Asp414Argfs*44 | 11 | Class 5 | 37 | Brazil | 1 | 7.77 | 7.77 | 0 | |
c.1437C > G | p.His479Gln | 11 | Class 3 | InSIGHT | Argentina | 1 | 7.77 | 7.77 | 0 | |
c.1831dupA | p.Ile611Asnfs*2 | 11 | Class 5 | InSIGHT | Argentina | 1 | 9.06 | 9.06 | 0 | |
c.2016delG | p.Met672Ilefs*16 | 12 | Class 5 | 31 | Chile | 1 | 8.61 | 8.61 | 0 | |
c.2036 T > C | p.Ile679Thr | 12 | Class 3 | 37 | Brazil | 1 | nd | nd | nd | |
c.2182_2184delinsG | p.Thr728Alafs*7 | 13 | Class 5 | HGMD | Brazil | 2 | nd | nd | nd | |
c.2192_2196delTAACT
| p.Leu731Cysfs*3 | 13 | Class 5 | InSIGHT | Brazil | 1 | 10.75 | 10.75 | 0 | |
c.2264 T > C | p.Ile755Thr | 13 | Class 3 | 37 | Brazil | 1 | nd | nd | nd | |
c.2276-?_2445 +?del | p.Ala759Glyfs*8 | 14 | Class 5 | InSIGHT | Chile | 1 | nd | nd | nd |
Founder variants
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 | Finland | |
MLH1
| c.1897-?_2271 +?del | Portugal (mutation with an estimated age of 283 years) | |
MLH1
| c.2044_2045del | Puerto Rico | |
MLH1
| c.2252_2253delAA | 1 in Argentina [40] | Italy (Northern region) |
MSH2
| c.(?_-68)_1076 +?del | 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 |
Update of the MMR variants from the previous South America LS study
Differences between LS patients according to the path_MMR gene
Clinical characteristics | Path_MMR carriers |
p value | ||||
---|---|---|---|---|---|---|
Path_MLH1
|
Path_MSH2
|
Path_MSH6
|
Path_PMS2
|
Path_EPCAM
| ||
Age at CRC diagnosis (mean)* | 37.5–41.7 (39.6)* | 38.6–41.7 (41.5)* | 31.2–43.9 (37.5) | 38–58 (48) | 38–65 (51.5) | |
Gender (n(%)) | ||||||
Female | 39 (54.2) | 40 (63.5) | 9 (90) | 7 (77.8) | 1 (33.3) | |
Male | 33 (45.8) | 23 (36.5) | 1 (10) | 2 (22.2) | 2 (66.7) | 0.261 |
Family history of CRC (n(%)) | ||||||
Yes | 53 (56.4) | 35 (48.6) | 3 (30) | 3 (75) | 2 (66.7) | |
No | 41 (43.6) | 37 (51.4) | 7 (70) | 1 (25) | 1 (33.3) | 0.449 |
Family history LS associated cancers (n(%)) | ||||||
Yes | 27 (20.1) | 18 (25) | 1 (10) | 1 (25) | 2 (66.7) | |
No | 107 (79.9) | 54 (75) | 9 (90) | 3 (75) | 1 (33.3) | 0.135 |
AMSII/Bethesda criteria (n(%)) | ||||||
AMSII criteria | 131(97) | 72(100) | 8 (100) | 2 (66.7) | 2 (66.7) | |
Bethesda | 4 (3) | 0 | 0 | 0 | 1 (33.3) | na |
Other criteria | 0 | 0 | 0 | 1 (33.3) |
Tumor testing results
Latin American Institutions | Number of families | Number of individuals | Age at CRC diagnosis (mean ± SD) | Age at endometrial cancer diagnosis (mean ± SD) | Clinical criteria | MMR deficient (%) | MMR non-deficient (%) | |
---|---|---|---|---|---|---|---|---|
AMSII | Revised Bethesda | |||||||
Instituto Nacional de Enfermedades Neoplásicas (Lima, Peru)a
| 82 | 83 | 41(13.1) | 52(9.01) | 22 | 60 | 40(48.2) | 43(51.8) |
Centro de EnfermedadesNeoplasicas Oncovida (La Paz, Boliva)b
| 46 | 61 | 27.7(12.7) | na | 46 | 0 | 3(4.9) | 58(95.1) |
Instituto Nacional de Cancerología de México (Mexico City, Mexico)c
| 23 | 60 | 33(14.6) | 37.5(12.02) | 11 | 12 | 23(38.3) | 37(61.7) |
Hospital Privado Universitario de Cordoba (Cordoba, Argentina)c
| 6 | 6 | 43.3(8.7) | NA | 0 | 6 | 3(50.0) | 3(50.0) |
Total | 157 | 210 | 79 | 78 | 69(32.8) | 141(67.2) |
Clinical characteristics | MMR status |
p value | |
---|---|---|---|
Deficient | Proficient | ||
Age at CRC diagnosis (mean + − SD) | 42.47 | 36.3 | |
Gender (n(%)) | |||
Male | 27 (39.1) | 36 (34.6) | |
Female | 42 (60.9) | 68 (65.4) | 0.545637 |
Family history of CRC (n(%)) | |||
Yes | 66 (98.5) | 40 (87) | |
No | 1 (1.5) | 6 (13) |
0.012333
|
Family history Lynch syndrome associated cancers (n(%)) | |||
Yes | 14 (20.9) | 6 (13) | |
No | 53 (79.1) | 40 (87) | 0.282626 |
AMSII/Bethesda criteria (n(%)) | |||
AMSII | 28 (42.4) | 5 (10.9) | |
Bethesda | 38 (57.6) | 41 (89.1) |
0.000314
|
Latin America published data | Number of families | Number of individuals | Clinical criteria | MMR deficient (%) | MMR non-deficient (%) | Loss IHC | MSI | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMSII | Revised Bethesda | Other criteria | MLH1 (%) | PMS2 (%) | MSH2 (%) | MSH6 (%) | PMS1 or MSH3* (%) | MSI-H (%) | MSS (%) | |||||
Medellin, Colombia [16] | 41 | 41 | 4 | 27 | 10 | 14 (34.1) | 27 (65.9) | na | na | na | na | na | 14 (34.1) | 27 (65.9) |
Rosario Santa Fe, Argentina [14] | 1 | 3 | 1 | na | na | 1 (33.3) | 2 (66.7) | na | na | na | na | na | 1 (33.3) | 2 (66.7) |
Sao Paulo, Brazil [15] | 106 | 106 | na | na | na | 14 (13.2) | 92 (86.8) | na | na | na | na | na | 14 (13.2) | 91 (85.9) |
Buenos Aires, Argentina [18] | 41 | 40 | 16 | 0 | 25 | 18 (45) | 22 (55) | 12 (30) | na | 7 (17.5) | na | na | 13 (32.5) | 17 (42.5) |
Minas Gerais, Brazil [22] | 66 | 66 | 8 | 15 | 43 | 15 (22.7) | 51 (77.3) | na | na | na | na | na | 15 (22.7) | 51 (77.3) |
San Juan, Puerto Rico [21] | 164 | 164 | na | na | na | 7 (4.3) | 157 (95.7) | 1 (0.06) | na | 6 (3.7) | na | na | 1 (0.6) | na |
Lima, Peru [24] | 90 | 90 | na | na | na | 35 (38.9) | 55 (61.1) | 23 (25.6) | 18 (20) | 4 (4.4) | 2 (2.2) | na | 26 (28.9) | 64 (71.1) |
Rio Grande do Sul, Brazil [25] | 212 | 197 | 22 | 100 | 0 | 42 (21.3) | 155 (78.7) | na | na | na | na | na | 42 (21.4) | 155 (78.7) |
Mexico City, Mexico [27] | 10 | 6 | 0 | 5 | 1 | 2 (33.3) | 4 (66.7) | 2 (33.3) | na | 0 | na | na | na | na |
Minas Gerais, Brazil [28] | 77 | 77 | 10 | 17 | 10 | 16 (20.8) | 61 (79.2) | na | na | na | na | na | 16 (20.8) | 61 (79.2) |
Santiago, Chile [31] | 35 | 35 | 19 | 16 | na | 21 (60) | 14 (40) | 21 (60) | 0 | 6 (17.1) | 4 (11.4) | na | 28 (80) | 7 (20) |
Lambayeque, Peru [35] | 5 | 3 | 5 | 0 | na | 1 (33.3) | 2 (66.7) | 1 (33.3) | 1 (33.3) | 0 | 0 | na | 1 (33.3) | 0 |
Sao Paulo, Brazil [37] | 118 | 118 | 9 | 52 | 57 | 3 (2.5) | 115 (97.5) | 3 (2.5) | 3 (2.5) | 5 (4.2) | 5 (4.2) | na | 12 (10.2) | na |
Santo Andre, SP, Brazil [43] | 48 | 48 | 2 | na | 17 | 13 (27.1) | 35 (72.9) | 2 (4.2) | 3 (6.3) | 0 | 2 (4.2) | 9 (19) | na | na |
Lima, Peru [45] | 28 | 28 | 0 | 0 | 28 | 11 (39.3) | 17 (60.7) | na | na | na | na | na | 11 (39.3) | 17 (60.7) |
Total | 1042 | 1022 | 96 | 232 | 191 | 213 (20.8) | 809 (79.2) | 65 (46.4) | 25 (17.9) | 28 (20) | 13 (9.3) | 9 (6.4) | 168 (36.9) | 287 (63.1) |
Family history
Latin American Databases | Number of families | Number of individuals | Clinical criteria | Interpreted as Sporadic cases | Suspected LS (%) | Non-suspected LS (%) | Median age at CRC diagnosis | ||
---|---|---|---|---|---|---|---|---|---|
AMSII | Revised Bethesda | Other criteria | |||||||
Mexico City, Mexico [49] | 210 | 210 | 2 | 0 | 56 | 154 | 2 (0.95) | 208 (99.05) | na |
Asuncion, Paraguay [50] | 324 | 324 | 9 | 0 | na | 315 | 9 (2.8) | 315 (97.2) | 55 |
Sao Paulo, Brazil [19] | 311 | 311 | 4 | 41 | 213 | 98 | 45 (31.5) | 266 (85.5) | na |
Lima, Peru [33] | 86 | 86 | 20 | 31 | 80 | 6 | 51 (59.3) | 35 (40.7) | na |
Total
| 931 | 931 | 35 | 72 | 349 | 573 | 107 (11.5) | 824 (88.6) |