Table 3 MMR genes mutation spectrum in Hispanic patients

Study

Population

n

Exon

Mutation

Protein Change

Exon

Mutation

Protein Change

Cruz-Correa et al. 2015 [57]

Puerto Rico

89

11

c.1024del16

p.Met342Cysfs*25

5

c.905 T > A

p.Leu302*

18

c.2044_2045delAT

p.Met682Valfs*11

11

c.1705delGA

p.Glu569Ilefs*2

16

c.1855delG

p.Ala619Leufs*18

9

c.1457del4

p.Asn486Thrfs*10

1–3

c.(?_-68)_645 + ?del (exon deletion)

Giraldo et al. 2005 [56]

Colombia

11

16

c.1855delG

p.Ala619Leufs*18

3

c.596delG

p.Cys199Leufs*15

Wielandt et al. 2012 [58]

Chile

35 fam

14 to 15

c.1559-?_1731 + ?del

p.Val520_Ser577 > Gfs*7

5

c.897 T > G

p.Tyr299*

19

c.2104-?_2271 + ?del

p.Ser702_X757del

Sarroca et al. 2003 [55]

Uruguay

461

1

c.181C > T

p.Gln61*

3

c.530_531delAA

p.Glu177Valfs*3

Vaccaro et al. 2007 [54]

Argentina

306

16

c.1852_1854del

p.Leu618del

12

c.1911del

p.Arg638Glyfs*47

3

c.388_389del

p.Asn130Valfs*2

InSIGHT [53]

Argentina

8

c.677G > A (missense)

p.Arg226Gln

1

c.166G > T

p.Glu56*

16

c.1890dup

p.Asp631*

3

c.388_389del

p.Gln130Valfs*2

7

c.1224 T > A

p.Tyr408*

13

c.2046_2047del

p.Val684Aspfs*14

Brazil

2

c.175dup

p.Ile59Asnfs*20

1

c.187del

p.Val63*

8

c.677G > A (missense)

p.Arg226Gln

5 to 6

c.793-?_1076 + ?del

p.Val265Ilefs*29

9

c.779 T > G (missense)

p.Leu206Arg

7

c.1249del

p.Val417Leufs*21

12

c.1276C > T

p.Gln426*

9

c.1444A > T

p.Arg482*

13

c.1459C > T

p.Arg487*

9

c.1447G > T

p.Glu483*

14

c.1639_1643dup

p.Leu549Tyrfs*44

11

c.1667del

p.Leu556*

16

c.1853delinsTTCTT

p.Lys618Ilefs*4

11

c.1738_1741delGAAAA

p.Glu580Leufs*9

17

c.1975C > T

p.Arg659*

12

c.1967_1970dup

p.Asp660Glufs*3

18

c.2041G > A (missense)

p.Ala681Thr

13

c.2131C > T

p.Arg711*

19

c.2224C > T

p.Gln742*

13

c.2152C > T

p.Gln718*

15

c.2525_2526del

p.Glu842Valfs*3

16

c.2785C > T

p.Arg929*

Puerto Rico

10

c.866_867dup

p.Pro290Thrfs*8

Uruguay

8

c.665del

p.Asn222Metfs*7

1

c.181C > T

p.Gln61*

3

c.530_531

p.Glu177Valfs*3

Portugal

10

c.793C > T (missense)

p.Arg265Cys

Spain

2

c.155_158del

p.Lys52ArgfsX4

3–6

c.224-?_1003 + ?del

p.Ala123Ilefs*2

2

c.199G > A (missense)

p.Gly67Arg

4

c.761del

p.Asn254Ilefs*20

4

c.332C > T (missense)

p.Ala111Val

4

c.691delG

p.Asp231Thrfs*15

4

c.350C > T (missense)

p.Thr117Met

6

c.1035G > A

p.Trp345*

5

c.382del

p.Ala128Glnfs*8

7

c.1249_1253del

p.Val417Thrfs*7

8

c.665del

p.Asn222Metfs*7

7

c.1255C > T

p.Gln419*

8

c.677G > A (missense)

p.Arg226Gln

9

c.1399G > T

p.Glu467*

9

c.701delA

p.Glu234GlyfsX4

9

c.731G > A (missense)

p.Gly244Asp

13

c.1420del

p.Arg747Glyfs*17

13

c.1459C > T

p.Arg487*

16

c.1865 T > A (missense)

p.Leu622His

16

c.1893del

p.Asp631Glufs*6