Table 4.

Amsterdam criteria, revised Bethesda guidelines, and colorectal cancer risk assessment tool

Amsterdam criteria I (24)

At least three relatives with colorectal cancer (CRC); all of the following criteria should be present:

One should be a first-degree relative of the other two;

At least two successive generations must be affected;

At least one of the relatives with CRC must have received the diagnosis before the age of 50 years;

Familial adenomatous polyposis should be excluded;

Tumors should be verified by pathologic examination.

Amsterdam criteria II (24)

At least three relatives must have a cancer associated with Lynch syndrome (colorectal, cancer of the endometrium, small bowel, ureter, or renal–pelvis); all of the following criteria should be present:

One must be a first-degree relative of the other two;

At least two successive generations must be affected;

At least one relative with cancer associated with Lynch syndrome (LS) should be diagnosed before age 50;

Familial adenomatous polyposis should be excluded in the CRC case(s) (if any);

Tumors should be verified whenever possible.

Revised Bethesda guidelines (24)

Tumors from individuals should be tested for microsatellite instability (MSI) in the following situations:

CRC diagnosed in a patient who is younger than 50 years of age

Presence of synchronous, or metachronous, colorectal or other LS-related tumorsa, regardless of age

CRC with MSI-high histologyb diagnosed in a patient who is younger than 60 years of age

CRC diagnosed in a patient with one or more first-degree relatives with an LS-related cancer, with one of the cancers being diagnosed under age 50 years

CRC diagnosed in a patient with two or more first- or second-degree relatives with LS-related cancer regardless of age

Colorectal cancer risk assessment tool c

(Patient who answers yes to any question should have more comprehensive family history evaluation)

1. Do you have a first-degree relative (mother, father, brother, sister, or child) with any of the following conditions diagnosed before age 50?

Colon or rectal cancer

Cancer of the uterus, ovary, stomach, small intestine, urinary tract (kidney, ureter, bladder), bile ducts, pancreas, or brain

2. Have you had any of the following conditions diagnosed before age 50 years?

Colon or rectal cancer

Colon or rectal polyps

3. Do you have three or more relatives with a history of colon or rectal cancer?

(This includes parents, brothers, sisters, children, grandparents, aunts, uncles, and cousins)

^aLynch syndrome-related cancers include colorectal, endometrial, gastric, ovarian, pancreas, ureter and renal pelvis, biliary tract, brain (usually glioblastoma), small intestinal cancers, as well as sebaceous gland adenomas and keratoacanthomas.

^bPresence of tumor-infiltrating lymphocytes, Crohn's-like lymphocytic reaction, mucionous/signet-ring differentiation, or medullary growth pattern.

^cAdapted with permission from Kastrinos et al. (27).