Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients

Table 1 Diagnosis criteria of hereditary non-polyposis colorectal cancer

Amsterdam criteria I
There should be at least three relatives with histologically verified CRC; and all the following criteria should be met:
1) One should be a first degree relative of the other two;
2) At least two successive generations should be affected;
3) At least one CRC should be diagnosed before age 50;
4) FAP should be excluded in CRC cases;
5) Tumors should be verified by pathological examination.
Amsterdam criteria II
There should be at least three relatives with an HNPCC-associated cancer (CRC, cancer of the endometrium, small bowel, ureter or renal pelvis); and all the following criteria should be met:
1) One should be a first-degree relative of the other two;
2) At least two successive generations should be affected;
3) At least one cancer should be diagnosed before age 50;
4) FAP should be excluded in CRC cases (if present)
5) Tumors should be verified pathologically.
Japanese criteria
1 A case with 3 or more colorectal cancers within the first-degree relatives
2 A case with 2 or more colorectal cancers within the first-degree relatives meeting the following criteria:
a) Age of onset of colorectal cancer(s) being lower than 50;
b) With right colon involvement;
c) With synchronous or metachronous multiple colorectal cancers;
d) Associated with synchronous or metachronous extracolorectal malignancies.
Bethesda Guidelines
1 Individuals from families that fulfil the Amsterdam criteria;
2 Individuals with two HNPCC-related cancers, including synchronous or metachronous cancers;
3 Individuals with colorectal cancer, plus colorectal cancer and/or HNPCC-related cancer and/or colorectal adenoma in a first-degree relative; at least one of the cancers diagnosed before 45 yr of age and the adenoma diagnosed before age 40;
4 Individuals with colorectal or endometrial cancer diagnosed before age 45;
5 Individuals with right-sided colorectal cancer with an undifferentiated histopathological pattern (solid/cribiform) diagnosed before age 45;
6 Individuals with signet-ring cell type colorectal cancer diagnosed before age 45;
17 Individuals with colorectal adenomas diagnosed before age 40.

¹Condition 7 was not included in this study.