Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2 Journal Article


Authors: Burke, W.; Daly, M.; Garber, J.; Botkin, J.; Kahn, M. J. E.; Lynch, P.; McTiernan, A.; Offit, K.; Perlman, J.; Petersen, G.; Thomson, E.; Varricchio, C.
Article Title: Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2
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.
Keywords: gene mutation; mutation; cancer risk; follow up; colorectal cancer; ovarian neoplasms; prostate specific antigen; cancer susceptibility; ovary cancer; breast cancer; bone marrow suppression; mastectomy; ovariectomy; neoplasm proteins; estrogen; estrogen therapy; risk factors; cancer screening; breast neoplasms; brca2 protein; heterozygote; tumor marker; transcription factors; prostate cancer; colorectal neoplasms; prostatic neoplasms; estrogen replacement therapy; ultrasonography, doppler, color; mammography; genes, brca1; thrombosis; echography; tamoxifen; antineoplastic agents, hormonal; ca 125 antigen; ca-125 antigen; decision making; genetic screening; oral contraceptive agent; sigmoidoscopy; genetic markers; genetic counseling; lifestyle; life style; neoplasms, hormone-dependent; contraceptives, oral; disease susceptibility; occult blood test; breast self-examination; humans; human; male; female; priority journal; article
Journal Title: JAMA - Journal of the American Medical Association
Volume: 277
Issue: 12
ISSN: 0098-7484
Publisher: American Medical Association  
Date Published: 1997-03-26
Start Page: 997
End Page: 1003
Language: English
PUBMED: 9091675
PROVIDER: scopus
DOI: 10.1001/jama.1997.03540360065034
DOI/URL:
Notes: Article -- Export Date: 17 March 2017 -- Source: Scopus
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  1. Kenneth Offit
    791 Offit