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Gut 2004;53:115-122 doi:10.1136/gut.53.1.115
  • Colon

Aetiology of colorectal cancer and relevance of monogenic inheritance

Table 3

Clinical features of registered HNPCC patients and families subdivided into four main groups (families positive for constitutional mutations (and MSI+), families with MSI+ tumours but no detectable germline mutations, families with stable tumours, and families which could not be tested)

Mut+ MSI+‡ Mut− MSI+ Mut− MSI− Not tested
*Including only extracolonic HNPCC related tumours (that is, endometrium, small bowel, renal pelvis and ureters, ovary, stomach).
†Considering colorectal cancer only (values are mean (SD)).
‡Mut+, individuals (and families) with constitutional mutations of hMSH2, hMLH1, or hMSH6 gene; MSI+, individuals (and families) with microsatellite instability in resected neoplasms.
HNPCC, hereditary non-polyposis colorectal cancer; MSI, microsatellite instability; CRC, colorectal carcinoma.
No of families 6 9 15 4
No of subjects 190 171 510 77
Family size (mean (SD)) 31 (10) 19 (4) 34 (6) 19 (4)
Members affected 69 45 138 19
Total tumours 85 58 158 20
Colorectal tumours 43 41 95 13
Extracolonic tumours* 21 11 10 1
Age at diagnosis (y)† 51 (9) 51 (11) 63 (11) 63 (5)
Colorectal cancer site
    Right colon 19 19 23 3
    Left colon+rectum 12 15 44 8
    Not assessable 12 7 28 2
5 y CRC survival (%) 63 56 31 46

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