title: Beyond BRCA1 and BRCA2.
abstract: A hereditary breast cancer syndrome can present in a variety of ways ranging from an index case of early-onset breast cancer to an incidental finding during an endoscopy or a dermatological examination. A comprehensive review of the patient’s personal and family history is essential to accurately assess the risk for a hereditary cancer syndrome. Clinicians should be aware of the wide variety of hereditary breast cancer syndromes beyond BRCA1 and BRCA2-associated HBOC. Failure to identify a rare hereditary breast cancer syndrome can lead to additional cancer diagnoses in the patient or relatives that might have been prevented with appropriately aggressive management and screening. Effective identification and management of patients with a hereditary breast cancer syndrome requires a team approach. The use of cancer gene panels, although they can be beneficial in many cases, may also reveal incidental information, unexpected diagnoses, and inconclusive findings. Patients should be offered comprehensive counseling about the potential impact of this type of genetic testing before deciding to pursue a gene panel test. This counseling should include information about the numerous genetic syndromes analyzed. When performed in the context of thorough pretest and posttest counseling, genetic testing is a powerful tool that can aid the patient, his or her family members, and their physicians in making appropriate medical management decisions.
authors.forename: Kimberly
authors.initials: K
authors.lastname: King-Spohn
authors.forename: Robert
authors.initials: R
authors.lastname: Pilarski
mesh_terms: D000328:Adult; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D009154:Mutation; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics