Genetics in Primary Care: An Introduction

January 17, 2001 - by Jerry Sobieraj, MD

Information in part derived from Genetics in Primary Care (GPC) Materials, which is an NIH funded demonstration project

    Amsterdam criteria:
  1. One member diagnosed with colorectal cancer before the age of 50.
  2. Two affected generations.
  3. Three affected relatives, 1 of them a first-degree relative of the other two.
  4. Familial adenomatous polyposis should be excluded.
  5. Tumors should be verified by pathological examination.

These criteria provide a general approach to indentifying HNPCC (Hereditary Non-Polyposis Colorectal Cancer) familes, but they are not considered comprehensive. A number of families who do not meet these criteria, but have germline mismatch repair gene mutations, have been reported (1, 2). To address these issues and to improve the diagnosis of HNPCC clinically, the ICG developed revised criteria in 1999, which are known as "Amsterdam Criteria II" (3).

    Amsterdam Criteria II:
  1. There should be at least 3 relatives with a HNPCC associated cancer (colorectal, cancer of the endometrium, small bowel, ureter or renal pelvis).
  2. At least one member diagnosed before the age of 50.
  3. At least two successive generations should be affected.
  4. One should be a first degree relative of the other two.
  5. Familial adenomatous polyposis should be excluded in the colorectal cancer cases.
  6. Tumors should be verified by pathological examination.
    References
  1. Peltomäki P, Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113 (4): 1146-58, 1997. [PUBMED Abstract]
  2. Beck NE, Tomlinson IP, Homfray T, et al.: Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surg 84 (2): 233-7, 1997. [PUBMED Abstract]
  3. Vasen HF, Watson P, Mecklin JP, et al.: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (6): 1453-6, 1999. [PUBMED Abstract]
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