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Table 2a Detected MHL1 mutations, clinical criteria and results of MSI and IHC analyses

From: Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis

clinical criteria

colon cancer total

colon cancer average

MS status age

loss MLH1 expression

loss MSH2 expression

mutation type

pathogenic

MLH1 mutation

A

4

46

ND

Yes

No

missense

yes

350C>T

A

3

34

MSI

No

No

frameshift

yes

1821insT

A

~7

NK*

ND

ND

ND

frameshift

yes

11379-1380delAG

A

4

54

MSI

ND

ND

stop

yes

2135G>A

A

5

35

ND

ND

ND

frameshift

yes

1492insG

A

4

37

MSI

Yes

No

stop

yes

2250C>A

A

9

45

MSS

Yes

No

missense

yes

122A>G

A

3

35

ND

ND

ND

frameshift

yes

735delC

A

3

32

ND

ND

ND

missense

yes

199G>A

A

4

43

MSI

ND

ND

stop

yes

1459C>T

A

6

46

ND

ND

ND

frameshift

yes

105insAAA

A

3

54

MSI

Yes

No

frameshift

yes

2252-2253delAA

B1-3

2

61

MSI

No

No

splice

yes

1989+1G>A

B1-3

2

39

MSI

Yes

No

missense

yes

350C>T

B1-3

1

30

MSS

No

No

missense

NK

110A>G

B1-3

1

48

ND

No

No

stop

yes

2250C>A

B1-3

2

34

ND

ND

ND

missense

yes

350C>T

B1-3

1

62

ND

ND

ND

stop

yes

1849A>T

B4-7

1

28

MSI

Yes

No

inframe

NK

1854-1856delAAG

B4-7

1

35

MSI

Yes

No

splice

yes

588+1G>A

MA

2

42

ND

No

Yes

missense**

no

2125G>A

MA

2

45

ND

ND

ND

missense

NK

2041G>A

MA

3

59

ND

ND

ND

splice

yes

2104-1delGAG

MA

2

43

ND

ND

ND

splice

yes

677G>A

  1. * extensive family history of colorectal cancer but no confirmatory details except for index case;
  2. ** a large deletion in hMSH2 was also found in this case