Review Article

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

Box 1

HNPCC clinical diagnostic criteria.
Amsterdam criteria I
(1) At least three relatives with CRC
(2) One of which is a first-degree relative of the other two
(3) Colorectal cancer affecting at least two successive generations
(4) At least one patient with colorectal cancer diagnosed <50 years
(5) Familial adenomatous polyposis should be excluded
(6) Tumors should be verified by pathologic examination
Amsterdam criteria II
(1) There should be at least three relatives with an HNPCC-associated cancer (CRC, cancer of the
endometrium, small bowel, ureter, or renal pelvis)
(2) One patient must be a first-degree relative of the other two
(3) Colorectal cancer affecting at least two successive generations
(4) As least one patient should be diagnosed <50 year
(5) Familial adenomatous polyposis should be excluded
(6) Tumors should be verified by pathologic examination
Revised Bethesda criteria
(1) CRC diagnosed in one patient <50 years
(2) Presence of synchronous or metachronous, colorectal or other HNPCC-associated tumors
(3) Pathologic features of a microsatellite instability-high cancer diagnosed in a patient <60 years
(4) CRC diagnosed in a patient with at least one first-degree relatives with an HNPCC-related
tumor with one of the cancer diagnosed <50 years (including adenoma <40 years)
(5) CRC diagnosed in a patient with at least two first-or second-degree relatives with HNPCC-
related tumors