BACKGROUND: Clinically significant mutations of BRCA1 and BRCA2 genes are 
associated with increased susceptibility for breast and ovarian cancer. Although 
these mutations are uncommon, public interest in testing for them is growing.
PURPOSE: To determine benefits and harms of screening for inherited breast and 
ovarian cancer susceptibility in the general population of women without cancer 
presenting for primary health care in the United States.
DATA SOURCES: MEDLINE (1966 to 1 October 2004), Cochrane Library databases, 
reference lists, reviews, Web sites, and experts.
STUDY SELECTION: Eligibility was determined by inclusion criteria specific to 
key questions about risk assessment, genetic counseling, mutation testing, 
prevention interventions, and potential adverse effects.
DATA EXTRACTION: After review of studies, data were extracted, entered into 
evidence tables, and summarized by using descriptive or statistical methods. 
Study quality was rated by using predefined criteria.
DATA SYNTHESIS: Tools assessing risks for mutations and referral guidelines have 
been developed; their accuracy, effectiveness, and adverse effects in primary 
care settings are unknown. Risk assessment, genetic counseling, and mutation 
testing did not cause adverse psychological outcomes, and counseling improved 
distress and risk perception in the highly selected populations studied. 
Intensive cancer screening studies are inconclusive. Chemoprevention trials 
indicate risk reduction for breast cancer in women with varying levels of risk, 
as well as increased adverse effects. Observational studies of prophylactic 
surgeries report reduced risks for breast and ovarian cancer in mutation 
carriers.
LIMITATIONS: No data describe the range of risk associated with BRCA mutations, 
genetic heterogeneity, and moderating factors; studies conducted in highly 
selected populations contain biases; and information on adverse effects is 
incomplete.
CONCLUSIONS: A primary care approach to screening for inherited breast and 
ovarian cancer susceptibility has not been evaluated, and evidence is lacking to 
determine benefits and harms for the general population.