Table 4

Germline MSH2 and MLH1 mutations in Polish HNPCC families

Mut. No.

Gene/exon or intron

Position of nucleotide with mutation

Consequence

Number of families

Reported in other populations

1.

MSH2/1

c.4 G>A

A2T

1

yes

2.

MSH2/1-6

unknown

del ex1-6 in DNA¹

1

?

3.

MSH2/2

del/ins²

Premature nonsense codon

1

no

4.

MSH2/3-6

unknown

del ex3-6 in DNA

1

?

5.

MSH2/3

c.435T>G

I45M

1

yes

6.

MSH2/3

c.613G>T

E205X

1

no

7.

MSH2/SD3

c.645 + 1g>t

del ex3 no reading frame shift

1

no

8.

MSH2/4

c.715 C>T

Q239X

1

no

9.

MSH2/SD5

c.942 + 3a>t

del ex5 no reading frame shift

10

yes

10.

MSH2/7

c.1204C>T

Q402X

1

no

11.

MSH2/7

c.1215C>A

Y405X

1

no

12.

MSH2/7

c.1216C>T

R406X

2

yes

13.

MSH2/7-16

unknown

del ex7-16 in DNA³

1

?

14.

MSH2/8

unknown

del ex8 in DNA⁴

1

?

15.

MSH2/9

unknown

del ex in DNA⁴

2

?

16.

MSH2/SD10

c.1661 + 5g>c

del ex10 with reading frame shift

1

no

17.

MSH2/11

c.1705-1706delGA

reading frame shift

1

no

18.

MSH2/12

c.1771-1772insA

reading frame shift

1

no

19.

MSH2/12

c.1968C>G

R656X

1

yes

20.

MSH2/13

c.2131C>T

R711X

1

yes

21.

MSH2/SD13

c.2210 + 1g>c

del ex13 with reading frame shift

1

no

22.

MSH2/14

c.2305delT

reading frame shift

1

no

23.

MSH2/14

c.2388delT

reading frame shift

1

no

24.

MSH2/14

c.2422G>T

E808X

2

no

25.

MSH2/SD15

c.2634 + 1g>a

del ex15 with reading frame shift

1

yes

26.

MLH1/1

c.37delG

reading frame shift

1

no

27.

MLH1/1

c.66delG

reading frame shift

1

yes

28.

MLH1/1

c.83C>T

P28L

3

yes

29.

MLH1/2

c.161delG

reading frame shift

1

no

30.

MLH1/2

c.184C>T

Q62X

2

yes

31.

MLH1/2

c.199G>A

G67R

1

yes

32.

MLH1/3

c.256C>T

Q86X

1

no

33.

MLH1/4

c.350C>T

T117M

1

yes

34.

MLH1/4

c.356-357insAA

reading frame shift

1

no

35.

MLH1/5

c.392C>A

S131X

1

no

36.

MLH1/7SA

c.546-2a>g

del ex7 with reading frame shift

1

yes

37.

MLH1/SD8

c.677G>T

del ex8 with reading frame shift

3

yes

38.

MLH1/10

g.37019613-37020677del1064

del ex10 in DNA⁴

1

no

39.

MLH1/SD10

c.883delAGgt

del ex10 with reading frame shift

1

no

40.

MLH1/SD10

c.883A>C (c.884-2A>C)

del ex10 with reading frame shift

1

no

41.

MLH1/12

c.1252-1253delGA

reading frame shift

1

no

42.

MLH1/12

c.1321G>A

A441T

3

yes

43.

MLH1/SD12

c.1409 + 1g>c

del ex12 with reading frame shift

1

yes

44.

MLH1/13

c.1489-1490insC

reading frame shift

3

yes

45.

MLH1/15

c.1672G>T

E558X

1

yes

46.

MLH1/15

c.1731G>A

del ex15 with reading frame shift

1

yes

47.

MLH1/16

c.1852-1854delAAG

618delK

1

yes

48.

MLH1/18

c.2040C>A

C680X

1

no

49.

MLH1/18

c.2041G>A

A681T

8

yes

50.

MLH1/19

c.2223delGCAGCTTGCTA

reading frame shift

1

no

? - definite answer is difficult without breakpoint sequencing mutations not found previously in other populations shown in bold;

¹probably no transcript of mutant allele;

²c.243delTAAAATGAATTTTGAATCTTTTGTAAAAGATinsCTGACAAGCGCCTATAGCA CTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACAT

TAACGAAAACAACCCACCCTACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTA TTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGAC

AATCCCACTTTACTTAAAACTCACAG (premature nonsense codon in bold); ³ shorter transcript of allele with deletion; ⁴ exon deleted and reading frame shift.

Kurzawski Hereditary Cancer in Clinical Practice 2006 4:197   doi:10.1186/1897-4287-4-4-197