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Previous Volume 349:1750-1760 October 30, 2003 Number 18 Next

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Presentation of Case

A 45-year-old woman came to the outpatient clinic for counseling because of concern about a family history of colonic polyps and cancer.

The patient felt well and had had no abdominal pain, change in bowel habits, rectal bleeding, or weight loss. She had had no operations and took no medications. A colonoscopic examination had been performed for screening purposes four years earlier, and no polyps had been identified. She did not smoke and rarely consumed alcohol.

The patient's mother was 80 years old and had been given a diagnosis of colon cancer at 75 years of age. The patient's father . . . [Full Text of this Article]

Pathological Discussion

Differential Diagnosis

Familial Adenomatous Polyposis and Attenuated Familial Adenomatous Polyposis

Genetic Basis of Familial Adenomatous Polyposis

Hereditary Nonpolyposis Colorectal Cancer

Colonic Adenomas and Germ-Line Mutations in MYH

Summary and Diagnosis

Dr. Daniel C. Chung's Diagnosis

Discussion of Management

Chemopreventive Agents

Genetic Testing in Classic or Attenuated Familial Adenomatous Polyposis

Genetic Testing and Results

Final Diagnosis

Source Information

From the Gastrointestinal Unit, Department of Medicine (D.C.C.), the Department of Pathology (M.M.), and the Center for Cancer Risk Analysis (D.C.C., K.M.S.), Massachusetts General Hospital; and the Departments of Medicine (D.C.C.) and Pathology (M.M.), Harvard Medical School.

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