Assessing breast cancer risk and BRCA1/2 carrier probability.
By identifying individuals with an increased risk of breast cancer, health professionals can offer prevention strategies tailored to individual risk levels. Such strategies may include early initiation of cancer screening, more frequent screening, targeted therapeutic or behavioral interventions, or prophylactic surgery. In order to achieve clinical benefits with this approach, however, risk assessment strategies and effective prevention measures must be available. In this article we review current knowledge about cancer risk assessment for unaffected women and probability models for identifying individuals who are carriers of a mutation in BRCA1 or BRCA2, the two genes most commonly implicated in hereditary breast cancer. We review BRCA1 and BRCA2 mutations in various ethnic populations and how this information factors into risk assessment. Additionally, we summarize the current guidelines for when to make a referral to genetic services for risk assessment and evaluation.
Culver
Julie
J
Department of Clinical Cancer Genetics, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA. jculver@coh.org
Lowstuter
Katrina
K
Bowling
Lauren
L
D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008962:Models, Theoretical; D010375:Pedigree; D011336:Probability; D012017:Referral and Consultation; D018570:Risk Assessment