Table 1 Germline mutation in DNA mismatch repair genes in Korean women with endometrial cancer associated with Lynch syndrome

MLH1

11

c.1008delG

37

Yes

–

–

–

–

–

E,C

3

MLH1

12

c.1367delC

45

Yes

Endometrioid

1

IA

–

MLH1, PMS2

E

Present

MLH1

12

c.1367delC

50

Yes

Endometrioid

2

IB

–

MLH1, MSH2, MSH6, PMS2

E

Present

MLH1

12

c.1367delC

27

Yes

Carcinosarcoma

3

IA

–

MLH,1 PMS2

E

Present

MLH1

15

c.1721 T > C

33

Yes

–

–

–

–

–

E,C,L

3

MLH1

16

c.1757_1758insC

45

Yes

Endometrioid

–

–

MSI-H

MLH1

E, C

4

MLH1

16

c.1757_1758insC

56

No

–

–

–

MSS

MLH1

E

5

MLH1

16

c.1757_1758insC

35

No

–

–

–

–

–

E

6

MLH1

16

c.1780_1781insC

55

Yes

–

–

–

–

MLH1

E

7

MLH1

16

c.1780_1781insC

46

Yes

–

–

–

–

MLH1

E,C

7

MLH1

16

c.1780_1781insC

45

Yes

–

–

–

–

MLH1

E,C

7

MLH1

16

c.1878_1881del

53

No

Endometrioid

–

–

–

MLH1

E,C,S

8

MLH1

17

c.1907 T > C

38

Yes

–

–

–

–

–

E,C,Sb

1

MLH1

19

c.4484 T > A

57

No

Endometrioid

–

–

MSI-H

MLH1

E, C

4

MSH2

1

c.23C > T

55

No

Endometrioid

1

IA

MSI-H

MSH2

E

9

MSH2

5

c.882delT

42

Yes

–

–

–

–

–

E

6

MSH2

IVS5

c.942 + 2dupT(IVS5)

47

Yes

Endometrioid

–

–

MSI-H

MSH2

E, C, Cx

4

MSH2

12

c.1886A < G

40

No

–

–

–

–

–

E

6

MSH2

12

c.1886A > G

49

Yes

Endometrioid

1

IA

MSI-H

MSH2

E,C

10

MSH2

13

c.2089 T > C

44

Yes

–

–

–

MSI-H

MSH2, MSH6

E

5

MSH2

13

c.2184_2186dup

51

Yes

Dedifferentiated

3

–

MSI-H

Normal^e

E,C

8

MSH2

15

c.2633_2634delAG

35

Yes

–

–

–

–

–

E,C

11

MSH2

7

c.2634_2634 + 1delGg

43

Yes

–

–

–

MSI-H

MLH1, MSH2

E

5

MSH2

16

c.2649 T > G

41

Yes

Endometrioid

1

II-

–

–

E,C

12

MSH6

5

c.3206G > A

72

No

–

–

–

MSI-H

MSH6

E

5

MSH6

5

c.3261dupC

60

Yes

Serous

–

IA

–

MLH1

E, C

13

MSH6

9

c.3823G > A / c.3821_3824dupAATG

48

No

–

–

–

MSI-H

MSH2, MSH6

E

5