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II. BRCA1 and BRCA2

Wylie Burke, MD, PhD; Mary Daly, MD, PhD; Judy Garber, MD, MPH; Jeffrey Botkin, MD, MPH; Mary Jo Ellis Kahn; Patrick Lynch, MD, JD; Anne McTiernan, MD, PhD; Kenneth Offit, MD, MPH; Jeffrey Perlman, MD; Gloria Petersen, PhD; Elizabeth Thomson, MS, RN; Claudette Varricchio, DSN, RN

JAMA. 1997;277(12):997-1003.

Abstract
Objective.
—To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes.

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 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 breast and ovarian cancer were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "breast cancer," "ovarian cancer," and "screening," or "surveillance" in combination with "cancer family" and "BRCA1" and "BRCA2." 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 expert opinion concerning presumptive benefit, early breast cancer and ovarian cancer screening are recommended for individuals with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of cancer following prophylactic surgery. 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.

Author Affiliations
for the Cancer Genetics Studies Consortium

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

Footnotes
A complete list of participants in the Cancer Genetics Studies Consortium appears at the end of this article.

Dr Petersen is a consultant to OncorMed Inc. No funding for this study was derived from OncorMed Inc. Reprints: Wylie Burke, MD, PhD, University of Washington 354765, 4245 Roosevelt Way NE, Seattle, WA 98105-6920.

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