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Table 1 Genetic alterations identified in the MYH gene and disease characteristics of the patients

From: Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients

Patient Number

HNPCC MMR Mutation

First Alteration

Second Alteration

Sex

Age of Diagnosis of Adenomas

Number of Adenomas

CRC (Age of Diagnosis)

Other Cancers

1

NO

Y165C

NO

F

43

1

N-AF

 

2

NO

G382D

V22M

F

>30

?

AF (36)

 

3

hMSH2 (P)*

G382D

NO

M

46

3

AF (46)

Melanoma (42)

4

NO

G382D

NO

M

>70

?

N-AF

Gastric (78)

5

hMSH2

G382D

NO

M

>30

?

N-AF

 

6

NO

G382D

V22M

F

>40

?

AF (47)

 

7

NO

G382D

NO

F

45

1

N-AF

 
  1. * hMSH2 polymorphism with an unknown functional consequence