Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.
OBJECTIVE
To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes.


METHODS
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).


METHODS
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.


METHODS
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.
Burke
W
W
Department of Medicine, University of Washington, Seattle, USA.
Daly
M
M
Garber
J
J
Botkin
J
J
Kahn
M J
MJ
Lynch
P
P
McTiernan
A
A
Offit
K
K
Perlman
J
J
Petersen
G
G
Thomson
E
E
Varricchio
C
C
D018931:Antineoplastic Agents, Hormonal; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D016504:Breast Self-Examination; D018394:CA-125 Antigen / Q000097:blood; D015179:Colorectal Neoplasms / Q000235:genetics / Q000517:prevention & control; D003276:Contraceptives, Oral; D003657:Decision Making; D004198:Disease Susceptibility; D015914:Estrogen Replacement Therapy; D005260:Female; D019398:Genes, BRCA1; D005817:Genetic Counseling; D005819:Genetic Markers; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008019:Life Style; D008297:Male; D008327:Mammography; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009376:Neoplasms, Hormone-Dependent / Q000517:prevention & control; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D010052:Ovariectomy; D011471:Prostatic Neoplasms / Q000235:genetics / Q000517:prevention & control; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D018615:Ultrasonography, Doppler, Color
D018931:Antineoplastic Agents, Hormonal; D024682:BRCA2 Protein; D018394:CA-125 Antigen; D003276:Contraceptives, Oral; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors