Table 4 MSI-test result and IHC protein expression pattern of tumours from patients tested for the presence of a MSH6 germline mutation

From: Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

MSI

 

MSI high

MSI stable/low

IHC

MSH6−

MSH6−

MSH6−a

MSH6−

MSH6+

 

MSH2+

MSH2-

MSH2−a

  
 

MLH1+

MLH1+

MLH1+a

  
 

PMS2+

PMS2+

PMS2−a

  

No pathogenic mutation in MSH6

1b

6

2

1c

89

Pathogenic mutation in MSH6

8

2

   
  1. IHC=immunohistochemistry; MSI=microsatellite instability.
  2. aIHC difficult to interpret.
  3. bWith MSH6 variant c.2117T>C (p.Phe706Ser).
  4. cMutation analysis was performed in the patients’ brother.
Back to article page