Table 2 Spectrum of alterations in South American Lynch syndrome families

MLH1

c.1-?_116 + ?del

p.M1_C39 > FfsX13

1

Causal

Chile

2

InSIGHT

c.199G > A

p.G67R

2

Causal

Argentina

1

InSIGHT

c.211G > T

p.E71X

3

Causal

Brazil

1

InSIGHT

c.289 T > G

p.Y97D

3

VUS

Uruguay

1

InSIGHT

C.336 T > A

p.H112Q

4

VUS

Argentina

1

InSIGHT

c.350C > T

p.T117M

4

Causal

Uruguay

2

InSIGHT

c.421C > G

p.P141A

5

VUS

Colombia

1

Giraldo et al. 2005 [2]

c.503dupA

p.N168KfsX4

6

Causal

Chile

1

InSIGHT

c.503delA^a

p.N168IfsX34

6

Causal

Brazil

1

Not previously described

c.545 + 3A > G

6

Causal

Brazil

2

InSIGHT

c.588 + 2 T > A^a

7

Causal

Brazil

1

Valentin et al. 2011 [3]

c.588 + 5G > C

7

Causal

Brazil

1

InSIGHT

c.665delA

p.N222MfsX7

8

Causal

Uruguay

2

InSIGHT

c.676C > T

p.R226X

8

Causal

Argentina

1

InSIGHT

c.677G > A

p.R226Q

8

Causal

Argentina, Brazil

3

InSIGHT

c.677 + 5G > A

8

Likely causal

Chile

1

French MMR network

c.779 T > G

p.L260R

9

Causal

Brazil

1

InSIGHT

c.790 + 1G > A

9

Causal

Chile, Colombia

3

InSIGHT

c.791-6_793delgtttagATC^a

10

Causal

Brazil

1

Valentin et al. 2011 [3]

c.794G > C

p.R265P

10

VUS

Chile

1

InSIGHT

c.901C > T

p.Q301X

11

Causal

Chile

1

InSIGHT

c.1013A > G^a

p.N338S

11

VUS

Brazil

1

InSIGHT

c.1038 + 1G > T^a

p.Y347FfsX13

11

Causal

Chile

1

Wielandt et al. 2012

c.1039-8T_1558?896Tdup^a

p.520Vfs564X

12 to 13

Causal

Colombia

2

Alonso-Espinaco et al. 2011 [11]

c.1276C > T

p.Q426X

12

Causal

Brazil

3

InSIGHT

c.1459C > T

p.R487X

13

Causal

Brazil

1

InSIGHT

c.1499_1501delTCA^a

p.I500del

13

Causal

Brazil

1

Rossi et al. 2002 [5]

c.1558 + 1G > T

13

Causal

Brazil

1

InSIGHT

c.1558 + 14G > A

13

VUS

Colombia

2

InSIGHT

c.1559-2A > C

13

Causal

Chile

1

InSIGHT

c.1559-?_1731 + ?del

p.V520_S577 > GfsX7^b

14 -15

Causal

Chile

1

Wielandt et al. 2012

c.1639_1643dup TTATA^a

p.L549YfsX44

14

Causal

Brazil

1

Valentin et al. 2011 [3]

c.1690_1693delCTCA

p.L564FfsX26

15

Causal

Brazil

1

InSIGHT

c.1724G > A

p.R575K

15

VUS

Argentina

1

InSIGHT

c.1731 + 3A > T^a

Skipping exon 15

15

Causal

Chile

1

Alvarez et al. 2010 [6]

c.1846delAAG

p.K616del

16

Causal

Argentina

1

InSIGHT

c.1852_1853delinsGC

p.K618A

16

Causal

Argentina

1

InSIGHT

c.1852_1854 delAAG

p.K618del

16

Causal

Argentina

1

InSIGHT

c.1853A > C

p.K618T

16

VUS

Brazil

1

InSIGHT

c.1853delAinsTTCTT^a

p.K618IfsX4

16

Causal

Brazil

2

Valentin et al. 2011 [3]

c.1856delG^a

16

Causal

Colombia

2

Giraldo et al. 2005 [2]

c.1890dup^a

p.D631fsX1

16

Causal

Argentina

1

Valentin et al. 2011 [3]

c.1897-?_1989 + ?del^a

17-19

Causal

Brazil

1

Not previously described

c.1918C > T

p.P640T

17

VUS

Colombia

1

InSIGHT

c.1975C > T

p.R659X

17

Causal

Brazil

1

InSIGHT

c.1998G > A

p.W666X

18

Causal

Brazil

1

Rossi et al. 2012 [5]

c.2027 T > C

p.L676P

18

Causal

Brazil

1

InSIGHT

c.2041G > A

p.A681T

18

Likely causal

Chile, Brazil, Colombia

4

French MMR network

c.2092_2093delTC

p.S698RfsX5

18

Causal

Chile

1

Alvarez et al. 2010 [6]

c.2224C > T^a

p.Q742X

19

Causal

Brazil

1

Valentin et al. 2011 [3]

c.2252_2253dupAA

p.V752KfsX26

19

VUS

Brazil

1

InSIGHT

c.2104-?_2271 + ?del^b

p.S702_X757del

19

Causal

Chile

2

Wielandt et al. 2012

MSH2

c.71delA^a

p.Q24fs

1

Causal

Brazil

1

Not previously described

c.166G > T^a

p.E56X

1

Causal

Argentina

1

InSIGHT

c.174dupC^a

1

Causal

Brazil

1

Not previously described

c.175dupC^a

p.K59QfsX23

1

Causal

Brazil

1

Valentin et al. 2011 [3]

c.181C > T^a

p.Q61X

1

Causal

Uruguay

1

Sarroca et al. 2003

c.187delG

p.V63fsX1

1

Causal

Brazil

1

InSIGHT

c.289C > T

p.Q97X

2

Causal

Argentina

1

InSIGHT

c.212-?_366 + ?del

p.A72_K122 > FfsX9

2

Causal

Chile

1

InSIGHT

c.388_389delCA

p.Q130VfsX2

3

Causal

Brazil, Argentina

2

InSIGHT

c.530_531delAA^a

p.E177fsX3

3

Causal

Uruguay

1

Sarroca et al. 2003

c.596delTG^a

3

Causal

Colombia

1

Giraldo et al. 2005 [2]

c.862C > T

p.Q287X

5

Causal

Brazil

1

InSIGHT

c.897 T > G

p.Y299X

5

Causal

Chile

1

Wielandt et al. 2012

c.942 + 3 A > T

5

Causal

Brazil

1

InSIGHT

c.1077-?_1276 + ?del

p.L360KfsX16

7

Causal

Argentina

1

InSIGHT

c.1147C > T

p.R382X

7

Causal

Brazil

1

InSIGHT

c.1215C > A

p.Y405X

7

Causal

Chile

1

InSIGHT

c.1216C > T

p.R406X

7

Causal

Uruguay

1

InSIGHT

c.1249delG

p.V417LfsX21

7

Causal

Brazil

1

InSIGHT

c.1255C > T

p.Q419X

7

Causal

Brazil

1

InSIGHT

c.1444A > T^a

p.R482X

9

Causal

Brazil

1

Valentin et al. 2011 [3]

c.1447G > T

p.E483X

9

Causal

Brazil

2

InSIGHT

c.1667delT^a

p.L556X

11

Causal

Brazil

1

Valentin et al. 2011 [3]

c.1667_1668insA^a

p.T557DfsX5

11

Causal

Brazil

1

Rossi et al. 2002 [5]

c.1910delC^a

p.R638GfsX47

12

Causal

Argentina

1

Vaccaro et al. 2007

c.1967_1970dupACTT^a

p.F657LfsX3

12

Causal

Brazil

1

Valentin et al. 2011 [3]

c.2038C > T

p.R680X

13

Causal

Chile

1

InSIGHT

c.2046_2047delTG^a

p.V684Dfs*14

13

Causal

Argentina

1

InSIGHT

c.2131C > T

p.R711X

13

Causal

Brazil

1

InSIGHT

c.2152C > T

p.Q718X

13

Causal

Brazil

6

InSIGHT

c.2185_2192del7insCCCT^a

p.M729_E731delinsP729_X730

13

Causal

Chile

1

Alvarez et al. 2010 [6]

c.2187G > T^a

p.M729I

13

VUS

Brazil

1

Valentin et al. 2011 [3]

c.2525_2526delAG^a

p.E842VfsX3

15

Causal

Brazil

2

Valentin et al. 2011 [3]

c.2785C > T^a

p.R929X

16

Causal

Brazil

1

Valentin et al. 2011 [3]