title: Breast Cancer: Genetics and Risk Assessment.
abstract: As health care providers, we play a crucial role in the assessment of a patient's risk for hereditary breast cancer syndromes. The panorama of genetic assessment and testing has evolved dramatically since the identification of the BRCA genes. Next-generation sequencing technology has facilitated the development of multigene panels, but 1 consequence has been an increased identification of pathogenic variants at odds with a family history as well as variants of uncertain significance for which treatment guidelines are not defined. Progress in this field requires close collaboration between patients and clinicians with a thorough understanding in cancer genetics.
authors.affiliation: Lifehouse Gynaecological Oncology Group, The University of Sydney, Sydney, Australia.
authors.forename: Trevor
authors.initials: T
authors.lastname: Tejada-Bergés
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008408:Mastectomy; D015233:Models, Statistical; D005810:Multigene Family / Q000235:genetics; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011788:Quality of Life; D018570:Risk Assessment