Table 2 Germline MLH1 and MSH2 mutations observed in Chinese HNPCC families

C4

Amsterdam

E18 c.2081 int T

E15 c.2469 int C

frameshift

[16]

c.2471 int G

frameshift

c. 2578 int T

frameshift

C11

Amsterdam

E13 c.2091 T>A

nonsense

[16]

C13

Amsterdam

E11 c.1760int T

frameshift

[16]

c.1688 A>C

missense

H2

Amsterdam

E13 c.2038 C>T

nonsense

[17]

H4

Amsterdam

E2 c.199 A>G

missense

[18]

H9

Amsterdam

E11 c.305 del 24bp

small deletion

[17]

H11

Amsterdam

E1 c.14 A>C

missense

[17]

H27

Amsterdam

E3 c.617 int A

frameshift

[17]

N8

Amsterdam

E8 c.655 A>G

missense

[19]

N11

Amsterdam

E3 c.265 G>T

nonsense

[19]

N14

Amsterdam

E6 c.545+3 A>G

splice point

[19]

N23

Amsterdam

E3 c.610 G>T

nonsense

[19]

N25

Amsterdam

E8 c.677 G>A

missense

[19]

HW7

Amsterdam

E14 c.2228 C>A

nonsense

[20]

HW5

Amsterdam

E14 c.1588-1590 del

small deletion

[20]

C1

Japan

E11 c.934 int A

frameshift

[21]

C6

Japan

E1 c.21 G>C

missense

[22]

C8

Japan

E12 c.1198 C>G

missense

[21]

c.1261 C>G

missense

c.1364 int C

frameshift

c.1372 int C

frameshift

N18

Japan

E9 c.790+1 G>A

splice point

[19]

N26

Japan

E14 c.2211-2 A>C

splice point

[19]

HW6

Japan

E15 c.1731+1 A>G

missense

[20]

H12

China

E15 c.2516 G>A

missense

[18]

H20

China

E19 c.2250 G>C

nonsense

[18]

H5

*

E3 c.425 G>C

nonsense

[23]

H6

*

E15 c.1731 G>A

splice point

[23]

H17

*

E15 c.1731 G>A

splice point

[23]

H45

*

E16 c.1846 del AAG

small deletion

[23]

H47

*

E12 c.1151 T>A

missense

[23]

H52

*

E2 c.194 G>A

missense

[23]

H56

*

E16 c.2792 A>C

missense

[23]

H62

*

E14 c.1588 del TTC

small deletion

[23]

H64

*

E15 c.1731+1 G>A

splice point

[23]

H65

*

E14 c.2228 C>A

nonsense

[23]

H67

*

E14 c.1559-2 G>A

splice point

[23]

H68

*

E2 c.137 G>T

missense

[23]

E11 c.914 int 24

frameshift

[23]