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March 26, 1997, Vol 277, No. 12 >
ARTICLE | March 26, 1997

Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: Title and subTitle BreakII. BRCA1 and BRCA2 FREE

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
[+] Author Affiliations

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.


JAMA. 1997;277(12):997-1003. doi:10.1001/jama.1997.03540360065034
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Article
References

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.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Easton DF, Ford D, Bishop DT, and the Breast Cancer Linkage Consortium.  Breast and ovarian cancer incidence in BRCA1-mutation carriers . Am J Hum Genet . 1995;;56:265-271.
2 +
Ford D, Easton DF.  The genetics of breast and ovarian cancer . Br J Cancer . 1995;;72:805-812.
3 +
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, and the Breast Cancer Linkage Consortium.  Risks of cancer in BRCA1-mutation carriers . Lancet . 1994;;343:692-695.
4 +
Easton DF, Bishop DT, Ford D, Crockford GP, and the Breast Cancer Linkage Consortium.  Genetic linkage analysis in familial breast and ovarian cancer . Am J Hum Genet . 1993;;52:678-701.
5 +
Biesecker BB, Boehnke M, Calzone K, et al.  Genetic counseling for families with inherited susceptibility to breast and ovarian cancer . JAMA . 1993;;269:1970-1974.
6 +
King M-C, Rowell S, Love SM.  Inherited breast and ovarian cancer . JAMA . 1993;;269:1975-1980.
7 +
Mili Y, Swensen J, Shattuck-Eidens D, et al.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 . Science . 1994;;266:66-71.
8 +
Wooster R, Neuhausen SL, Mangion J, et al.  Localization of a breast cancer susceptibility gene, BRCA2,to chromosome 13q12-13 . Science . 1994;;265:2088-2090.
9 +
Wooster R, Bignell G, Lancaster J, et al.  Identification of the breast cancer susceptibility gene BRCA2 . Nature . 1995;;378:789-791.
10 +
US Preventive Services Task Force. Guide to Clinical Preventive Services . 2nd ed. Baltimore, Md: Williams & Wilkins; 1996;.
11 +
Burke W, Petersen G, Lynch P, et al, for the Cancer Genetics Studies Consortium.  Recommendations for follow-up care of individuals with an inherited predisposition to cancer, I: hereditary nonpolyposis colon cancer . JAMA . 1997;;277:915-919.
12 +
Neuhasen SL, Mazoyer S, Friedman L, et al.  Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study . Am J Hum Genet . 1996;;58:271-280.
13 +
Phelan CM, Rebbeck TR, et al.  Ovarian cancer risk in BRCA1 carriers is modified by HRAS1 variable number of tandem repeat (VNTR) locus . Nat Genet . 1996;;12:309-311.
14 +
Tavtigian SV, Simard J, Rommens J, et al.  The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds . Nat Genet . 1996;;12:10-14.
15 +
Thorlacius S, Tryggvadottir L, Olafsdottir GH, et al.  Linkage to BRCA2 region in hereditary male cancer . Lancet . 1995;;345:544-545.
16 +
Gudmundsson J, Johannesdottir G, Bergthorsson JT, et al.  Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13 . Cancer Res . 1995;;55:4830-4832.
17 +
Shattuck-Eidens D, McClure M, Simard J, et al.  A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene . JAMA . 1995;;273:535-541.
18 +
Claus EB, Risch N, Thompson WB.  Autosomal dominant inheritance of early onset breast cancer . Cancer . 1994;;73:643-651.
19 +
Foster RS Jr, Lang SP, Costanza MC, Worden JK, Haines CR, Yates JW.  Breast self-examination practices and breast-cancer stage . N Engl J Med . 1978;;299:265-270.
20 +
Greenwald P, Nasca PC, Lawrence CE, et al.  Estimated effect of breast self-examination and routine physician examinations on breast-cancer mortality . N Engl J Med . 1978;;299:271-273.
21 +
Newcomb P, Weiss N, Storer B, et al.  Breast self-examination in relation to the occurrence of advanced breast cancer . J Natl Cancer Inst . 1991;;83:260-265.
22 +
Thomas DB, Gao DL, Self S, et al. A randomized trial of breast self-examination in Shanghai: methodology and preliminary results. J Natl Cancer Inst. In press.
23 +
Beam CA, Layde PM, Sullivan DC.  Variability in the interpretation of screening mammograms by US radiologists . Arch Intern Med . 1996;;156:209-213.
24 +
Burhenne HJ, Burhenne LW, Goldberg F, et al.  Interval breast cancers in the screening program of British Columbia: analysis and classification . AJR Am J Roentgenol . 1994;;162:1067-1071.
25 +
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To understand the clinical management of acute heart failure syndromes.
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