Table 3

Tumour spectrum of the affected relatives in the 22 families with identified germline mutations (the index patients are not included)

Germline mutation
hMSH2 (n=7) hMLH1 (n=15)
Male Female Male Female
Total number of relatives affected by a malignancy2-150 18173229
Colorectal13 (72%) 9 (53%)28 (85%)19 (59%)
Stomach 2 1 1 1
Pancreas 1 2
Duodenum 1 1
Endometrium 7 (41%) 2 (6%)
Breast 4
Urothelium 2 1 1 1
Others 3 5
  • 2-150 Some patients had multiple malignant tumours.