[Skip to Content]
[Skip to Content Landing]
March 19, 1997

Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary Nonpolyposis Colon Cancer

Author Affiliations

for the Cancer Genetics Studies Consortium
From the Department of Medicine, University of Washington, Seattle (Dr Burke), Department of Epidemiology, The Johns Hopkins University, Baltimore, Md (Dr Petersen), M. D. Anderson Cancer Center, University of Texas, Houston (Dr Lynch), Utah Center for Human Genome Research, Eccles Institute of Human Genetics, University of Utah, Salt Lake City (Dr Botkin), Fox Chase Cancer Center, Philadelphia, Pa (Dr Daly), Dana-Farber Cancer Institute, Boston, Mass (Dr Garber), the National Breast Cancer Coalition (Ms Kahn), Fred Hutchinson Cancer Research Center, Seattle, Wash (Dr McTiernan), Memorial Sloan-Kettering Institute for; Cancer Research, New York, NY (Dr Offit), Ethical, Legal, and Social Implications Branch, National Human Genome Research Institute, Bethesda, Md (Ms Thompson), and the National Cancer Institute, Bethesda, Md (Dr Varricchio).

JAMA. 1997;277(11):915-919. doi:10.1001/jama.1997.03540350065035

Objective.  —To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations associated with hereditary nonpolyposis colon cancer (HNPCC).

Participants.  —A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by the National Human Genome Research Institute (previously the National Center for Human Genome Research).

Evidence.  —Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to colon cancer were identified using MEDLINE and bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "colon cancer," and "screening" in combination with "cancer family" and "HNPCC." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force.

Consensus Process.  —The task force developed recommendations through discussions over a 14-month period.

Conclusions.  —Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on observational studies, colonoscopy every 1 to 3 years starting at age 25 years is recommended for individuals known to have HNPCC-associated mutations. Endometrial cancer screening is also recommended, based on expert opinion concerning presumptive benefit. No recommendation is made for or against prophylactic surgery (ie, colectomy, hysterectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.