Testing Guidelines for HNPCC Revised
National Cancer Institute -- February 17, 2004
An international panel of experts on hereditary colon cancer have revised the Bethesda Guidelines for which colorectal tumors should be tested for microsatellite instability (MSI), a factor in the diagnosis of hereditary non-polyposis colon cancer (HNPCC). The new guidelines are published in the February 18, 2004 issue of The Journal of the National Cancer Institute.
HNPCC usually occurs in patients under age 45 and is inherited directly. Under the new guidelines, patients with any of the following characteristics should have their tumors tested for MSI, with positive results followed up with genetic counseling and testing.
--The patient is younger than age 50.
--The patient has multiple HNPCC-associated tumors in the colon or in other areas known to be caused by the same mutations, either at the same time or occurring over a period of time.
--A patient younger than age 60 has colorectal cancer that has microscopic characteristics that are often indicative of MSI.
--A patient has one or more first-degree relatives who had an HNPCC-related tumor at age 50 or younger.
--A patient has two or more first- or second-degree relatives who had HNPCC-related tumors at any age.
HNPCC-related tumors include colon, rectum, endometrium, stomach, ovaries, brain, and skin.
Genetic testing can provide gudance for surveillance of other family members and follow-up care for patients who are identified with HNPCC.
Read the press release from the National Cancer Institute.