Table 3 Overview of microsatellite stable/low tumours

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

 

Patient with non-MSI-high tumour and loss of MSH6 expression

Patients with non-MSI-high tumours and positive MSH6 expression

Selected group of patients with non-MSI-high tumours and positive MSH6 expression without a pathogenic mutation in MSH6

Colorectal ca

 

295

76

Age <50 yr

 

171 (58%)

62 (82%)

Other HNPCC-related neoplasia

1

67

13

 Endometrial ca

 

15

3

 Gastric ca

 

3

 

 Sebaceous ca

 

4

 

 Urothelial cell ca

 

1

 

 Brain tumour

 

1

 

 Metastatic tissue

1a

7

 

 Small bowel

 

1

 

 Adenoma

   

 Colon

 

34

10

 Duodenum

 

1

 

Age <50 yr

0

34 (51%)

9 (69%)

  1. MSI=microsatellite instability; HNPCC=hereditary non-polyposis colorectal cancer; ca=cancer.
  2. aMutation analysis in the patients’ brother showed no MSH6 mutation.
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